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Gene: Zscan10 MGI:3040700

Gene Summary

Name:

zinc finger and SCAN domain containing 10

Synonyms:

Zfp206, Zscan10

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Zscan10^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	0.00
abnormal retina morphology		Zscan10^{tm2a(EUCOMM)Wtsi}	HET		Early adult	3.34×10^-05

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X-ray

XRay Images Forepaw

13 Images

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Legacy Phenotype Associated Images

Zscan10^{tm2a(EUCOMM)Wtsi}
HET, Male, WTSI

View all 68 images

Zscan10^{tm2a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

Zscan10^{tm2a(EUCOMM)Wtsi}
right eye, HET, Female, WTSI

Zscan10^{tm2a(EUCOMM)Wtsi}
cornea/lens fusion, HET, Female, WTSI

Zscan10^{tm2a(EUCOMM)Wtsi}
left eye, HET, Female, WTSI

Zscan10^{tm2a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HET, Female, WTSI

View all 7 images

Zscan10^{tm2a(EUCOMM)Wtsi}
corpus callosum, decreased corpus callosum size, HET, Male, WTSI

Zscan10^{tm2a(EUCOMM)Wtsi}
HET, Male, WTSI

Zscan10^{tm2a(EUCOMM)Wtsi}
corpus callosum, decreased corpus callosum size, HET, Male, WTSI

Zscan10^{tm2a(EUCOMM)Wtsi}
HET, Male, WTSI

View all 6 images

Zscan10^{tm2a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Zscan10 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 Zscan10 (0 diseases)
Human diseases predicted to be associated with Zscan10 (1818 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zscan10 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinitis Pigmentosa, Late-Adult Onset	Rod-cone dystrophy	OMIM:268025
Cone-Rod Dystrophy, X-Linked, 2	Cone dystrophy, Cone/cone-rod dystrophy	OMIM:300085
Retinitis Pigmentosa 67	Rod-cone dystrophy	OMIM:615565
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 24	Rod-cone dystrophy, Cone dystrophy	OMIM:300155
Retinitis Pigmentosa, Y-Linked	Rod-cone dystrophy	OMIM:400004
Retinitis Pigmentosa 55	Rod-cone dystrophy	OMIM:613575
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Choroidal Dystrophy, Central Areolar, 3	Chorioretinal atrophy, Drusen	OMIM:613144
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy	OMIM:215500
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent fever, Elevated haptoglobin level, In...	OMIM:620632
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Recurrent fever, Pancytopenia, Abnormal B cell count, Neutrope...	OMIM:308240
Immunodeficiency 27A	Hypoalbuminemia, Fever, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegaly, Leukocytosi...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Fever, Recurrent...	OMIM:616050
Alpha-Heavy Chain Disease	Fever, Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, ...	ORPHA:100025
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent fever, Pancyt...	ORPHA:507
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Cataract, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Failure t...	OMIM:618805
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatome...	ORPHA:172
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Fever, Failure t...	OMIM:617872
Immunodeficiency 32B	Hypoalbuminemia, Fever, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat...	OMIM:619868
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypothermia, Ventricular septal defect, Arrhythmia, ...	ORPHA:26793
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Limited knee flexion/extension, Abnormal EKG, Inability to walk, Reduced left ventr...	ORPHA:268
Wolcott-Rallison Syndrome	Chronic kidney disease, Acute hepatic failure, Difficulty walking, Hyperbilirubinemia, Decreased ...	ORPHA:1667
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Recurrent fever, Hepatosplenomegaly, Pancytopenia, Ataxia, Hepatomegaly, Reduce...	OMIM:603553
Fibular Hemimelia	Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Difficulty walkin...	ORPHA:93323
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Ascites, L...	ORPHA:90362
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph...	ORPHA:289157
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Aortic re...	OMIM:222470
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Positive Romberg sign, Acanthocytosis, Hepatic steatosis, T...	ORPHA:14
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Abnormal heart morphology, T lymphocytopenia, Hypocalcemia	DECIPHER:16
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:241200
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat...	OMIM:617303
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat...	ORPHA:158061
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
3-Hydroxy-3-Methylglutaric Aciduria	Hypothermia, Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Ataxia, Anorexia, Hepatom...	ORPHA:20
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Fever, Failure to thrive, Clinodactyly, Abnormal circulat...	OMIM:618048
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hypotension, Hepatitis, Fever, Cardiomyopathy, C...	ORPHA:292
Sepsis In Premature Infants	Temperature instability, Hypothermia, Decreased body weight, Neutropenia, Hepatomegaly, Elevated ...	ORPHA:90051
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
X-Linked Agammaglobulinemia	Hepatitis, Fever, Failure to thrive, Hypocalcemia, Abnormality of the lymphatic system, Agammaglo...	ORPHA:47
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Ataxia, Hepatomegaly, Nephrotic syndrome, Premature ovarian insufficiency, Ost...	OMIM:212065
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Exudative retinal detachment	OMIM:614224
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation...	OMIM:155100
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, Jaundice, Incr...	ORPHA:540
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypothermia, Myoglobinuria, Arrhythmia, Urinary incontinence, Tachycardia, Hyp...	ORPHA:94093
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent fever, Respiratory distress, Lymphopenia, Increased c...	OMIM:619773
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Elevated circulating thyroid-stimulat...	ORPHA:95717
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Elevated circulating aspart...	OMIM:619048
Al Amyloidosis	Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Increased...	ORPHA:85443
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim...	OMIM:603909
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Neutropenia, Abnormal...	ORPHA:175
Coloboma Of Macula	Macular coloboma	OMIM:120300
Drug-Induced Lupus Erythematosus	Prolonged QTc interval, Fever, Elevated circulating creatine kinase concentration, Hematuria, Dec...	ORPHA:231111
Osteopetrosis, Autosomal Recessive 1	Visual impairment, Failure to thrive, Flared metaphysis, Pancytopenia, Blindness, Splenomegaly, H...	OMIM:259700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Decreased liver function, Ascites, Cholestasis, Elevated circ...	OMIM:608104
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Fever, Failure to thrive, Generalized dystonia, Hy...	OMIM:618235
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ...	ORPHA:37202
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Unexplained fevers, Failure to thrive, Elevated circulating aspartate amino...	OMIM:614727
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis,...	ORPHA:79443
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Hypoalbuminemia, Impaired vibration sensation in the lower limbs, Pes...	ORPHA:94124
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Hypothermia, Increased circulating antibody l...	ORPHA:99826
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metac...	OMIM:169400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Anorexia, Respiratory distress, Renal insufficiency, Splenomeg...	ORPHA:79312
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Falls, Impaired vibration sensation in the lower limbs, Pes cavus, Mitral r...	ORPHA:447753
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Hypoalbuminemia, Failure to thrive, Cardiomyopathy, Elevated circulating aspa...	OMIM:613752
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary amenorrhea, Hyperchole...	OMIM:612526
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Osteopenia, Failure to thrive, Increased circulating IgE level, ...	ORPHA:98813
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Glome...	OMIM:619487
Chorioretinal Atrophy, Progressive Bifocal	Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy	OMIM:600790
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch...	ORPHA:247598
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormal epiphysis morphology, Genu valgum, Blindness, Hypocalcem...	ORPHA:53
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Pseudohypoparathyroidism Type 1B	Cataract, Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parath...	ORPHA:94089
Slc35A2-Cdg	Short tibia, Talipes equinovarus, Precocious puberty, Osteopenia, Inability to walk, Failure to t...	ORPHA:356961
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ...	OMIM:613845
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h...	OMIM:601859
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem...	ORPHA:179
Pseudohypoparathyroidism, Type Ic	Cataract, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating...	OMIM:612462
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Impaired vibratory sensation, Hypoalbuminemia, Pes cavus, Distal sensory impairment, Step...	OMIM:607250
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Rhizomelia, Failure to thrive, Short tibia, Sandal gap, Respirat...	OMIM:607143
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Fever, Failure to thrive, Increased ci...	ORPHA:169154
Alg6-Cdg	Hypoalbuminemia, Failure to thrive, Puberty and gonadal disorders, Abnormality of the liver, Decr...	ORPHA:79320
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoparathy...	ORPHA:699
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc...	OMIM:619271
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Recurrent fever, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyp...	OMIM:620085
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Elevat...	OMIM:264700
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Cockayne Syndrome Type 1	Cataract, Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot joint ...	ORPHA:90321
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma...	OMIM:620486
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Abnormal e...	ORPHA:95716
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac...	ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Micrognathia,...	OMIM:259720
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Malaria	Acute kidney injury, Fever, Respiratory distress, Gait imbalance, Hyperbilirubinemia, Elevated ci...	ORPHA:673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Hypothermia, Elevated circulating creatine kinase co...	OMIM:618775
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame...	OMIM:617021
Alg12-Cdg	Biventricular hypertrophy, Overlapping fingers, Micrognathia, Abnormal circulating IgG level, Tal...	ORPHA:79324
Bacterial Toxic-Shock Syndrome	Abscess, Tachypnea, Glomerulonephritis, Tachycardia, Shock, Elevated circulating creatinine conce...	ORPHA:36234
Autoimmune Hypoparathyroidism	Cataract, Calcium nephrolithiasis, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Pa...	ORPHA:36913
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Impotence, Urinary bladder sphincter dysfunction, Gait ataxia, Intention tremor, Dys...	ORPHA:93256
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Budd-Chiari syndrome, ...	OMIM:226300
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis,...	ORPHA:79444
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, He...	ORPHA:454836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Cachexia, Neutropenia, Tubulointerstitial nephritis, Abnormal bl...	ORPHA:37042
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Hypothermia, Hypocalcemia, Ventricular septal defect...	OMIM:601005
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Recurrent fever, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly,...	OMIM:617388
Celiac Disease, Susceptibility To, 1	Ataxia, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Ricket...	OMIM:212750
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Reni Syndrome	Hypoalbuminemia, Ataxia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome...	OMIM:617575
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Recurrent fever, ...	OMIM:603552
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Difficulty walkin...	OMIM:600081
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Decreased fertility, Weight loss, Renal salt wasting, Hyperkalemia, Abnorma...	ORPHA:90794
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Talipes equinovarus, Short ...	OMIM:611209
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Fever, Increased circulating ferritin concentration, Recurrent fever, Hepatospl...	OMIM:613101
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Chorea, Limb ataxia, Gait ataxia, Pes cavus, Distal sensory impairment, Elevated...	OMIM:208920
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen...	OMIM:210250
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Wilson Disease	Hypouricemia, Kayser-Fleischer ring, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Lim...	OMIM:277900
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Bernard-Soulier Syndrome	Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in...	OMIM:231200
Gracile Bone Dysplasia	Failure to thrive, Slender long bone, Flared metaphysis, Ascites, Aniridia, Hypocalcemia, Decreas...	OMIM:602361
Myopathy, Tubular Aggregate, 2	Ankle flexion contracture, Falls, Hypocalcemia, Elevated circulating creatine kinase concentratio...	OMIM:615883
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Thrombotic Thrombocytopenic Purpura, Hereditary	Fever, Microangiopathic hemolytic anemia, Respiratory distress, Elevated circulating creatinine c...	OMIM:274150
Mu-Heavy Chain Disease	Nephropathy, Fever, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circu...	ORPHA:100024
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,...	ORPHA:275555
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Subacute Inflammatory Demyelinating Polyneuropathy	Absent patellar reflexes, Somatic sensory dysfunction, Difficulty walking, Positive Romberg sign,...	ORPHA:206594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop...	OMIM:235400
Relapsing Fever	Epistaxis, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormal...	ORPHA:91547
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Dyschromatopsia, Photophobia, Obesity, Proteinuria, Polyphagia, Hypertension,...	ORPHA:251004
Oculoskeletodental Syndrome	Renal agenesis, Short femoral neck, Splenomegaly, Hypocalcemia, Lacunar stroke, Hypothyroidism, M...	OMIM:618440
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Congenital hypothyroidism, Obesity, Cardiomegaly, Craniosynostosis	ORPHA:88643
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Recurrent fever, Increased circulating ferritin concentration, I...	OMIM:620603
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Recurrent fever, Increased circulating ferriti...	OMIM:613011
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia, Left ventricular hypertrophy, Hyperalaninemia, Bradycardia, Dystonia	OMIM:614654
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:613090
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega...	OMIM:615193
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
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Respiratory distress, Hyperammonemia, Hypothermia, Hyperglutamatemia, Aggressi...	OMIM:237310
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Hematochezia, Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokalemia, Cachexia, Anorexi...	OMIM:175500
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypothermia, Hypomethioninemia, Neutropenia, Ataxia, Jaundice, Visual impairment, Methylmalonic a...	ORPHA:79282
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Fever, Congestive heart...	ORPHA:247353
Necrotizing Enterocolitis	Temperature instability, Hypotension, Ascites, Abnormal heart morphology, Shock, Apnea, Leukocyto...	ORPHA:391673
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased response to growth hormone stimula...	OMIM:618347
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Fever, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytos...	ORPHA:54057
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Chorea, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hep...	ORPHA:289916
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Cardiomyopathy, Pa...	OMIM:606054
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Recurrent fever, Lymphopenia, Leukopenia, Follicular hyperplasia, Telangiectas...	OMIM:615934
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Decreased body ...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomeg...	OMIM:608776
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc...	OMIM:608836
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo...	OMIM:619013
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Urinary incontinenc...	ORPHA:358
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Elevated circulating creatini...	ORPHA:230
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased circulating IgA level, Tremor, ...	OMIM:617744
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s...	OMIM:214700
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Atrial fibrillation, Elevated circulating hepatic transaminase concentration, Failure...	OMIM:613327
Immunodeficiency 10	Decreased circulating IgG level, Recurrent fever, Hypoplasia of the iris, Recurrent urinary tract...	OMIM:612783
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Fever, Cervical lymphadenopa...	ORPHA:83313
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Ascites, Leukocytosis, Eosinophilia, Weight loss, Elevated circula...	ORPHA:2070
Gaucher Disease Type 1	Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increased circulating antibody level, Hematuria,...	ORPHA:77259
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Fever, Palpitations, Leukocytosis,...	ORPHA:86839
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Acute myeloid leukemia, N...	ORPHA:158057
Hypophosphatasia, Infantile	Unossified vertebral bodies, Nephrocalcinosis, Metaphyseal cupping, Phosphoethanolaminuria, Fever...	OMIM:241500
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Hypomethioninemia, Hematuria, Reduced visual acuity, Neutropenia, Hepatomegaly, Tach...	OMIM:277400
Irvan Syndrome	Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ...	ORPHA:209943
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Talipes equi...	OMIM:242900
Genetic Recurrent Myoglobinuria	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:99845
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia	OMIM:615361
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Clinodactyly, Proximal placement of thumb, Overlapping toe, Hydronephr...	OMIM:616737
Meningococcal Meningitis	Hypotension, Fever, Shock, Paresthesia, Renal insufficiency, Hypothermia, Lethargy, Increased cir...	ORPHA:33475
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Griscelli Syndrome	Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concent...	ORPHA:381
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hematuria, Hypermetropia, Macroscopic hem...	OMIM:248250
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Rhabdoid Tumor	Fever, Renal neoplasm, Hematuria, Hypertension, Neoplasm of the liver, Weight loss, Lymphadenopat...	ORPHA:69077
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome, Cerebral visual impairment	OMIM:614652
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Hyperphosphatemia, Elevated circulating parathyroid ...	OMIM:618618
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Fever, Decreased lymphocyte prolif...	OMIM:619313
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Aut...	OMIM:618495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Autosomal Recessive Spastic Paraplegia Type 9B	Urinary retention, Tip-toe gait, Absent Achilles reflex, Postural tremor, Spastic gait, Pollakisu...	ORPHA:447760
Vitreoretinal Degeneration, Snowflake Type	Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous	OMIM:193230
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim...	ORPHA:226313
2P21 Microdeletion Syndrome	Failure to thrive, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria	ORPHA:163693
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly,...	ORPHA:27
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased gl...	OMIM:602522
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Temperature instability, Short tibia, Abnormal circula...	OMIM:620306
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Diffuse Alveolar Hemorrhage	Fever, Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension...	ORPHA:90060
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalani...	OMIM:614702
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morpho...	ORPHA:93160
Mitochondrial Dna-Associated Leigh Syndrome	Hypothermia, Episodic respiratory distress, Low plasma citrulline, Ataxia, Hepatomegaly, Dysphagi...	ORPHA:255210
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Laryngeal dystonia, Hypocalcem...	ORPHA:94090
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul...	OMIM:300400
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Cardiomyopathy, Congestive heart failure, Cholestasis, Failure to thrive in infancy...	ORPHA:746
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Kenny-Caffey Syndrome, Type 1	Small hand, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Congen...	OMIM:244460
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Endocardial fibrosis, Absence of lymph...	OMIM:235550
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Abnorm...	ORPHA:90674
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Retinal hemorrhage, Hematuria, Anorexia, Neutrophilia, Jaundice, Hepatomegaly, Tach...	ORPHA:99827
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At...	OMIM:212138
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fail...	OMIM:620357
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Systemic Lupus Erythematosus 17	Hypertensive crisis, Fever, Recurrent fever, Lymphopenia, Chorea, Leukopenia, Mitral regurgitatio...	OMIM:301080
Bleeding Disorder, Platelet-Type, 21	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor...	OMIM:617443
Slc35A1-Cdg	Giant platelets, Respiratory distress, Pulmonary hemorrhage, Abnormal platelet granules, Thromboc...	ORPHA:238459
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Microphthalmia, Hypoparathyroidism, Hypocalcemia, Abnormality of the medullary...	OMIM:127000
Mevalonic Aciduria	Cataract, Nuclear cataract, Elevated circulating hepatic transaminase concentration, Fluctuating ...	OMIM:610377
Autosomal Recessive Kenny-Caffey Syndrome	Small hand, Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Stenosis of the medu...	ORPHA:93324
Colchicine Poisoning	Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Respiratory d...	ORPHA:31824
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ...	ORPHA:470
Multiple Myeloma	Nephropathy, Osteopenia, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine...	ORPHA:29073
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Oliguria, Fever, Resting tr...	ORPHA:319213
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod...	ORPHA:71289
Pudendal Neuralgia	Paresthesia, Dyspareunia, Erectile dysfunction, Allodynia, Dysuria, Pollakisuria	ORPHA:60039
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Osteopenia, Epiphyseal dysplasia, Co...	OMIM:617913
Sengers Syndrome	Cataract, Osteopenia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Premature ovarian...	OMIM:212350
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating alanine ami...	OMIM:620376
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Glycogen Storage Disease Iv	Hepatic failure, Failure to thrive, Cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal circula...	OMIM:232500
Spontaneous Periodic Hypothermia	Hypothermia, Tremor, Arrhythmia, Gait disturbance, Ataxia	ORPHA:29822
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,...	OMIM:608971
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Microphthalmia, Splenomegaly, Aplasia/Hypoplasia of the iris,...	ORPHA:290
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Postaxial foot polydactyly, Overlapping fingers, Ventricular septal defect, Talipes equinovarus, ...	OMIM:301056
Igg4-Related Retroperitoneal Fibrosis	Hematuria, Weight loss, Retrograde ejaculation, Anorexia, Elevated circulating C-reactive protein...	ORPHA:49041
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Respiratory distress, Elevated circulating creatinine concentration, Left ventri...	OMIM:616733
Alg1-Cdg	Hypoalbuminemia, Decreased liver function, Cardiomyopathy, Abnormal heart morphology, Renal insuf...	ORPHA:79327
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Fever, Decreased circulating IgG...	ORPHA:90363
Liver Disease, Severe Congenital	Portal inflammation, Recurrent fever, Dilatation of the ventricular cavity, Hyperbilirubinemia, M...	OMIM:619991
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia, Dicarboxylic aciduria	OMIM:615026
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c...	OMIM:616730
Babesiosis	Hepatic failure, Fever, Congestive heart failure, Photophobia, Leukopenia, Renal insufficiency, S...	ORPHA:108
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Hepatic s...	ORPHA:2959
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Reduced circulating complement concentration, Elevated circulating creatinin...	ORPHA:567544
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Decreased response to growth hormone stimul...	OMIM:241410
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Renal hypoplasia, Rhizomelia, Short iliac bones, Elevated circulating creatinine concen...	OMIM:614376
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Methylmalonic aciduria, Failure to thrive, Elevated circulating aspartate aminotransferase concen...	OMIM:245400
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalc...	ORPHA:667
Primary Erythromelalgia	Leukemia, Vasculitis, Abnormality of thrombocytes, Hypothermia	ORPHA:90026
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Abnormal epiphysis morphology, Elevated circulating thyroid-stimulat...	ORPHA:90673
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype...	ORPHA:84090
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Reduced circ...	OMIM:618944
Pseudohypoparathyroidism, Type Ia	Cataract, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Short toe, Short fin...	OMIM:103580
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Corneal opacity	ORPHA:1980
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Hyperphosphaturia, Tooth abscess, Hypophosphatemia, Iron def...	ORPHA:89937
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Inability to walk, Obesity, Genu valgum, Hypothermia, Astigmatism, Hypoventilation, Hip co...	OMIM:618493
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Head tremor,...	ORPHA:64753
Sarcoidosis	Abnormal lymph node morphology, Hypothermia, Arrhythmia, Weight loss, Hepatomegaly, Tubulointerst...	ORPHA:797
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Attention deficit hyperactivity disorder, Cachexia, ...	ORPHA:647
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Fever, Congestive heart...	ORPHA:67
Late-Onset Isolated Acth Deficiency	Weight loss, Anorexia, Hypoparathyroidism, Premature ovarian insufficiency, Pituitary adenoma, Gr...	ORPHA:199299
Ring Chromosome 10 Syndrome	Sandal gap, Micrognathia, Hypocalcemia, Renal hypoplasia/aplasia, Cachexia, Microphthalmia, Taper...	ORPHA:1438
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, H...	OMIM:606407
Gombo Syndrome	Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Delayed puberty, Brachydacty...	OMIM:233270
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Primary Biliary Cholangitis	Xanthelasma, Cirrhosis, Increased circulating IgA level, Hepatomegaly, Jaundice, Ascites, Abnorma...	ORPHA:186
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, C...	ORPHA:858
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Recurrent fever, Osteomalacia, Follicular hyperplasia, Weight lo...	OMIM:619381
Autosomal Recessive Spastic Paraplegia Type 35	Enuresis nocturna, Generalized dystonia, Difficulty walking, Positional foot deformity, Dysmetria...	ORPHA:171629
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Hemoph...	OMIM:619644
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Apnea, Ventricular septal defect, Bradycardia, Elevated urine 2,3-di...	OMIM:616277
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Abnormality of humoral immunity, Abnor...	ORPHA:572
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormally large globe, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly...	ORPHA:1655
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Cholera	Hypovolemic shock, Acute kidney injury, Hypotension, Fever, Hypocalcemia, Hypokalemia, Hyponatrem...	ORPHA:173
Oculoskeletodental Syndrome	Short 5th finger, Nephrocalcinosis, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hy...	ORPHA:557003
Tularemia	Brain abscess, Cutaneous abscess, Fever, Cervical lymphadenopathy, Respiratory distress, Abnormal...	ORPHA:3392
Tetanus	Fever, Elevated urinary norepinephrine level, Respiratory distress, Tremor, Elevated circulating ...	ORPHA:3299
Aicardi-Goutieres Syndrome 6	Splenomegaly, Tremor, Loss of ambulation, Increased circulating Interferon-alpha concentration, T...	OMIM:615010
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Overlapping toe, Thrombocytopenia, Ventricular arrhythmia, Increased mean ...	OMIM:620475
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Keratoconus, Elevated circulating hepatic transaminase concentration, Palmoplant...	OMIM:242150
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ...	ORPHA:1830
Aapoaiv Amyloidosis	Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm...	ORPHA:439232
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatic steatosis, 3-Methylglutaconic aciduria, Hypothermia, Hepatomegaly, Unsteady gait, Hypospa...	ORPHA:17
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea...	ORPHA:859
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Micrognathia, Splenomegaly, Hypocalcemia, ...	OMIM:235255
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Stuve-Wiedemann Syndrome 1	Short tibia, Recurrent fever, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long ...	OMIM:601559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Gait distur...	OMIM:609286
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Dysphagia, Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Developmental cataract, Corneal...	OMIM:618815
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paresthesia, Visual loss, Ventricular septal defect, Paroxysmal atrial ...	ORPHA:49827
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
22Q11.2 Deletion Syndrome	Micrognathia, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Posterior embryotox...	ORPHA:567
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Weight loss, Abnormality of the kidney, Nephrotic syndrome, Vasculiti...	ORPHA:91139
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Postural tremor, Gait ataxia, R...	OMIM:254900
Forsythe-Wakeling Syndrome	Osteoporosis, Nephrotic syndrome, Thrombocytopenia, Decreased body weight	OMIM:613606
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll...	OMIM:153670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o...	ORPHA:277
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Increased circulating prolactin concentration, Hypothermia, Ventricular septal ...	ORPHA:438213
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4...	ORPHA:443811
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Low urinary cyclic AMP respons...	OMIM:603233
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Abnormal circulating chemokine concentration, Acute kidney injury, Anuria, Hypocalc...	ORPHA:544482
Classic Galactosemia	Action tremor, Decreased fertility in females, Primary amenorrhea, Ataxia, Premature ovarian insu...	ORPHA:79239
Menkes Disease	Metaphyseal spurs, Decreased circulating ceruloplasmin concentration, Hypothermia, Metaphyseal wi...	OMIM:309400
Maternal Uniparental Disomy Of Chromosome 1	Cataract, Type I diabetes mellitus, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia, Ep...	ORPHA:251009
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Failure to thrive, Decreased live...	ORPHA:79319
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum morphology, Thrombocyt...	ORPHA:3319
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Finger joint contracture, Chorea, Paresthesia, Micrognathia, Dysmetria, Hy...	ORPHA:48431
Double Outlet Right Ventricle	Hypoplastic left heart, Failure to thrive, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot,...	ORPHA:3426
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin...	OMIM:614857
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Lymphadenitis, Increased circulating IgE level, Abnormal mesen...	ORPHA:449395
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Obesity, Palpitations, Decreased female...	ORPHA:91355
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Acute kidney injury, Hyperphosphatemia, Oliguria, Decreased liver function, Mali...	ORPHA:466650
Developmental And Epileptic Encephalopathy 78	Inability to walk, Chorea, Cerebral visual impairment, Hypothermia	OMIM:618557
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy...	ORPHA:31826
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod...	OMIM:616201
Wild Type Attr Amyloidosis	Nephropathy, Impaired vibratory sensation, Aortic valve stenosis, Congestive heart failure, Hyper...	ORPHA:330001
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Abnormal circulating lipid concentration, Inability to walk, Decreased response to ...	ORPHA:488632
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Failure to thrive, Rena...	OMIM:602579
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr...	OMIM:618329
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Fever, Central apnea, Prolong...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Fever, Central apnea, Prolong...	ORPHA:529799
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Cardiomyopathy, Respiratory distress, Leukopenia, Stag...	OMIM:251000
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:618183
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Failure to thrive, Decreased liver function, Cardiomyopathy, 3-M...	ORPHA:67048
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Hepatic steato...	OMIM:270400
Holocarboxylase Synthetase Deficiency	Organic aciduria, Anorexia, Respiratory distress, Hyperammonemia, Keratoconjunctivitis, Lethargy,...	ORPHA:79242
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Familial Isolated Hypoparathyroidism	Nephropathy, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, H...	ORPHA:2238
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia, H...	ORPHA:2123
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Parest...	OMIM:601198
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Hypocalcemia, Astigmatism, Co...	ORPHA:2323
Atelis Syndrome 1	Cataract, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Ventricular sep...	OMIM:620184
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Recur...	OMIM:300635
2Q24 Microdeletion Syndrome	Cataract, Hand clenching, Toe syndactyly, Abnormality iris morphology, Failure to thrive, Bullet-...	ORPHA:1617
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Inability to walk, Elevated circulating creatine kinase concentration, Calf muscl...	OMIM:613155
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Increased circulating interleukin 8 concentration, Finger swelling, Recurre...	OMIM:256040
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic sei...	OMIM:146200
Acquired Central Diabetes Insipidus	Diabetes insipidus, Polydipsia, Weight loss, Pollakisuria	ORPHA:95626
Oncogenic Osteomalacia	Renal phosphate wasting, Abnormal foot morphology, Abnormality of the tarsal bones, Abnormal femu...	ORPHA:352540
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia	OMIM:189800
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Elevated circulating hepatic transaminase concentration, Decreased spe...	OMIM:614576
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD...	OMIM:607271
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Cataract, Short distal phalanx of finger, Renal insufficiency, Hypocalcemia, Mitral ...	ORPHA:1563
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Failure to thrive, Micrognathia, Pa...	ORPHA:2785
Chylomicron Retention Disease	Hypoalbuminemia, Impaired vibratory sensation, Hypotriglyceridemia, Failure to thrive, Hypocholes...	OMIM:246700
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Micrognathia, Hypothermia, Cerebral visual impairment, Bradycardia	OMIM:614498
Hemochromatosis, Type 4	Cataract, Impotence, Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steato...	OMIM:606069
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lattice retinal degeneration, Retinal detachment, Vitreous floaters, Peripheral vitreoretinal deg...	OMIM:614292
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Clinodactyly of the 5th finger, Joint contracture of t...	OMIM:614407
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Tachypnea, Cirrhosis, Unconjugated h...	OMIM:613658
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Large for gestational age, Corneal opacity, Microphthalmia, Hepatomegaly	ORPHA:2432
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Tetralogy of Fallot, 11 pairs...	OMIM:618624
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, Ventricular septal defect, Talip...	OMIM:235510
Orthostatic Hypotension 1	Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen, Orthostatic hypotension,...	OMIM:223360
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fract...	OMIM:620152
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Tricuspid regu...	OMIM:616501
Xeroderma Pigmentosum, Complementation Group G	Cataract, Pes cavus, Tremor, Ataxia, Microphthalmia, Small for gestational age	OMIM:278780
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Cataract, Focal segmental glomerulosclerosis, Hand clenching, Slender finger, Hy...	OMIM:251300
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Abnormality of complement system, Acute ...	ORPHA:2134
Yellow Fever	Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concent...	ORPHA:99829
Sickle Cell Anemia	Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi...	ORPHA:232
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Metaphyseal irregularity, Elevated circulating parathyroid hormone level, Polydips...	OMIM:239200
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Igg4-Related Aortitis	Fever, Increased circulating IgE level, Reduced circulating complement concentration, Increased c...	ORPHA:449400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Bulbous...	ORPHA:163979
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Stage 3 chronic kidney disease, Elevated circulating cre...	OMIM:620366
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dysp...	OMIM:616276
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype...	OMIM:278000
Cranioectodermal Dysplasia 1	Chronic kidney disease, Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all finger...	OMIM:218330
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Visual loss, Thiamin...	OMIM:249270
Hennekam Syndrome	Finger syndactyly, Abnormal foot morphology, Ascites, Lymphopenia, Horseshoe kidney, Camptodactyl...	ORPHA:2136
Refsum Disease	Cataract, Abnormality of vision, Abnormal epiphysis morphology, Visual impairment, Cardiomyopathy...	ORPHA:773
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai...	ORPHA:88618
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia, Sick ...	OMIM:617182
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asci...	OMIM:610965
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Recurrent fever, Increased circulating ferritin concentration...	OMIM:618886
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Adult-Onset Autosomal Dominant Leukodystrophy	Temperature instability, Hypothermia, Distal sensory impairment, Action tremor, Ataxia, Dysphagia...	ORPHA:99027
Immunodeficiency With Hyper-Igm, Type 1	Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Senior-Loken Syndrome	Chronic kidney disease, Cataract, Nephronophthisis, Cone-shaped epiphysis, Stage 5 chronic kidney...	ORPHA:3156
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy, Lethargy, Hypothermia, 2-ethylhydracylic aciduria	OMIM:610006
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Throm...	OMIM:229050
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Visual impairment, Somatic sensory dysfu...	ORPHA:297
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Finger swelling, Failure to thrive, Recu...	OMIM:617591
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Impaired vibration sensation in the lower limb...	OMIM:159550
Beta-Ketothiolase Deficiency	Ataxia, Hypotension, Ketonuria, Fever, Anorexia, Leukocytosis, Hyperammonemia, Hyperuricemia, Ora...	ORPHA:134
Tafro Syndrome	Fever, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly...	ORPHA:457077
Lethal Faciocardiomelic Dysplasia	Hypoplastic left heart, Short 5th finger, Microretrognathia, Sandal gap, Short tibia, Short thumb...	ORPHA:1972
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Abnormality of the calcaneus, Atrioventricular canal defect,...	ORPHA:40366
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incr...	ORPHA:101028
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A...	ORPHA:79124
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Osteomalacia, Elevated circulating creatinine concentration, Distal renal tubul...	OMIM:179800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Reduced visual acuity, Visual impairment, Microphthalmia	OMIM:616335
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Pediatric-Onset Graves Disease	Polyphagia, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Polyd...	ORPHA:525731
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema...	ORPHA:2137
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Fever, Increased circu...	ORPHA:158048
Gaucher Disease	Aortic valve calcification, Pancytopenia, Increased circulating antibody level, Hematuria, Cirrho...	ORPHA:355
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu...	OMIM:614817
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Ascites, Anorexia, Hypersplen...	ORPHA:98850
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Kawasaki Disease	Arrhythmia, Elevated circulating C-reactive protein concentration, Jaundice, Vasculitis, Sterile ...	ORPHA:2331
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Failure to thrive, Abnormal circulating creatin...	OMIM:615838
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R...	OMIM:301110
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Reduced visual acuity, Neutropenia, Ataxia, J...	ORPHA:167
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Elevated circulating phytanic acid concentration, Abnormality of the liver, Constrictio...	OMIM:614307
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Total anomalous pulmonary venous return, Clinodactyly, Abnormal heart ...	ORPHA:487796
Neuraminidase Deficiency	Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Epiphyseal s...	OMIM:256550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hypertension, Thrombocytopenia	OMIM:166990
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Vici Syndrome	Lymphopenia, Micrognathia, Decreased proportion of CD4-positive helper T cells, Atrial septal def...	OMIM:242840
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Crumpled long bones, Abnormal lower limb bone morphology, Congenital blindness, Visua...	ORPHA:2788
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Pes planus, Urinary incontinence, Motor stereotypy, Attention deficit hyperactivity...	ORPHA:476126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Isolated Atp Synthase Deficiency	Cataract, Renal hypoplasia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Re...	ORPHA:254913
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Impaired vibratory sensation, Obesity, Hypercholesterolemia, Ataxia, Dystonia, E...	OMIM:616267
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,...	OMIM:256300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f...	OMIM:617093
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup...	ORPHA:79404
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Galactokinase Deficiency	Cataract, Nuclear cataract, Small for gestational age, Failure to thrive, Reduced circulating com...	ORPHA:79237
Galactosemia I	Increased level of galactitol in red blood cells, Cataract, Aminoaciduria, Galactosuria, Failure ...	OMIM:230400
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Schnitzler Syndrome	Vasculitis, Fever, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased b...	ORPHA:37748
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Hypermetropia, Corneal opacity, Ane...	ORPHA:79396
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ...	ORPHA:240
Immunodeficiency 23	Somatic sensory dysfunction, Failure to thrive, Increased circulating IgE level, Lymphopenia, Abs...	OMIM:615816
Neutropenia, Chronic Familial	Clubbing of fingers, Clubbing, Neutropenia, Increased circulating antibody level	OMIM:162700
Wolfram Syndrome 1	Cataract, Hydroureter, Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sidero...	OMIM:222300
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Abnormality of humoral immunity, Painless fractures due to injury, Recurr...	ORPHA:642
Aicardi-Goutieres Syndrome 3	Dystonia, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocyt...	OMIM:610329
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Kayser-Fleischer ring, Failur...	ORPHA:905
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Weight loss, Hypochromic microcytic anemia, Anorexi...	ORPHA:2494
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou...	ORPHA:274
Staphylococcal Necrotizing Pneumonia	Hypotension, Fever, Shock, Respiratory distress, Leukopenia, Leukocytosis, Lethargy, Increased ci...	ORPHA:36238
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Unilateral microphthalmos, Visual loss, Splenomegaly, Hepatomegaly, Osteopetro...	OMIM:615085
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Lower Urinary Tract Obstruction, Congenital	Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U...	OMIM:618612
Hypophosphatasia	Failure to thrive in infancy, Abnormal metaphysis morphology, Bowing of the long bones, Anemia, C...	ORPHA:436
Late-Onset Familial Hypoaldosteronism	Hypotension, Fever, Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating ...	ORPHA:556037
Coccidioidomycosis	Abnormality of the spleen, Abscess, Abnormal metacarpal morphology, Abnormality of the kidney, In...	ORPHA:228123
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hyporefl...	OMIM:601419
Glutamine Deficiency, Congenital	Micromelia, Apnea, Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly	OMIM:610015
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increas...	ORPHA:330015
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp...	OMIM:127300
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Digeorge Syndrome	Micrognathia, Hepatic steatosis, Ventricular septal defect, Posterior embryotoxon, Patellar dislo...	OMIM:188400
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Fever, Leukocytosis, Splenomegaly, Visual loss, Weig...	ORPHA:3226
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Giant cell hepatitis, Talipes calcaneovalgus, Micrognathia, Ventricular septal defec...	OMIM:208085
Immunodeficiency 48	Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho...	OMIM:269840
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper...	OMIM:619111
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulatin...	OMIM:251110
Encephalitis Lethargica	Diplopia, Fever, Tremor, Increased circulating antibody level, Lethargy, Bradycardia, Urinary inc...	ORPHA:83600
Nephronophthisis-Like Nephropathy 2	Polydipsia, Recurrent fever, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:619468
Cataract 11, Multiple Types	Cataract, Chorea, Blindness, Developmental cataract, Microphthalmia	OMIM:610623
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelvis, Cholestasi...	OMIM:619534
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Increased circulating IgE level, Mu...	OMIM:615508
Wiskott-Aldrich Syndrome	Nephropathy, Increased circulating IgE level, Abnormal delayed hypersensitivity skin test, Lympho...	OMIM:301000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Primary Myelofibrosis	Fever, Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp...	ORPHA:824
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Finger swelling, Abnormal circulating li...	ORPHA:206572
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica...	OMIM:201475
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Congenital Analbuminemia	Hypoalbuminemia, Pedal edema, Obesity, Hyperlipidemia, Increased circulating antibody level, Hype...	ORPHA:86816
Alexander Disease	Precocious puberty, Self-injurious behavior, Osteopenia, Hypotension, Diplopia, Failure to thrive...	ORPHA:58
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,...	OMIM:601457
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Ventricular hypertrophy, Visual impairment, Failure to thrive, H...	OMIM:618278
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormal tibia morphology...	ORPHA:249
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:94080
Acute Adrenal Insufficiency	Weight loss, Anorexia, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal ...	ORPHA:95409
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Elevated circulating hepatic...	ORPHA:210136
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, D...	OMIM:609053
Addison Disease	Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Renal salt wasting, Premature o...	ORPHA:85138
Citrullinemia Type I	Hepatic failure, Failure to thrive, Scotoma, Hyperammonemia, Ankle clonus, Lethargy, Tachypnea, T...	ORPHA:247525
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypotension, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Pares...	ORPHA:428
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Micrognathia, Knee contracture, Hip contracture, Talipes, Pes valgus, Ac...	OMIM:620351
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Bone cyst, Proteinuria, Glomerulopathy, Anemia, Hyperca...	ORPHA:2668
Chediak-Higashi Syndrome	Hemophagocytosis, Reduced visual acuity, Abnormal dense granules, Neutropenia, Ataxia, Hepatomega...	OMIM:214500
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome...	ORPHA:656
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Aminoaciduria, Aortic regurgitation, Clinodactyly, Pulmonary hemorrhage, Decreased platel...	OMIM:603585
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Adams-Oliver Syndrome	Finger syndactyly, Congenital hepatic fibrosis, Talipes, Cirrhosis, Abnormal metacarpal morpholog...	ORPHA:974
Angiostrongyliasis	Hyperesthesia, Diplopia, Fever, Paresthesia, Hypereosinophilia, Blurred vision, Increased circula...	ORPHA:74
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Micrognathia, Proteinuria, Ar...	OMIM:617729
Mirage Syndrome	Hypospadias, Rocker bottom foot, Microphallus, Recurrent urinary tract infections, Radial club ha...	OMIM:617053
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th finger, Short...	OMIM:227330
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Failure to thrive, Cervical lymphadenop...	OMIM:617718
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent fever, Elevated circulating creatinine concentration, Recurrent corneal erosions, Hyper...	OMIM:223900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276575
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Charge Syndrome	Lymphopenia, Unilateral microphthalmos, Micrognathia, Anophthalmia, Ventricular septal defect, Ov...	OMIM:214800
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Acute Interstitial Pneumonia	Fever, Elevated circulating creatinine concentration, Reduced hematocrit, Hypertension, Tachypnea...	ORPHA:79126
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi...	ORPHA:66529
Infantile Refsum Disease	Cataract, Abnormal epiphysis morphology, Failure to thrive, Cardiomyopathy, Elevated circulating ...	ORPHA:772
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Fever, Increased ci...	ORPHA:635
Alg8-Cdg	Cataract, Elevated circulating hepatic transaminase concentration, Failure to thrive, Ascites, Hy...	ORPHA:79325
Pontocerebellar Hypoplasia, Type 15	Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Fever, Recurrent...	OMIM:614699
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Recurrent urinary t...	ORPHA:83471
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Fetal Parvovirus Syndrome	Abnormality of vision, Ascites, Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia	ORPHA:295
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia...	ORPHA:226307
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Failure to thrive, Respiratory distress, Pancytopenia, Hypergl...	OMIM:251100
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior synechiae of the anterior chamber, Increased circulating antibody level, Weight loss, A...	ORPHA:91500
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye...	OMIM:260400
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Respiratory distress, Bowing of the long bones, Pulmonary arterial hype...	OMIM:619751
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Amblyopia, Developmental cataract, Microphthalmia, V...	OMIM:604219
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c...	OMIM:614493
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Lymphopenia, Micrognathia, Atrial septal defect, Microphthalmia, Cataract, Macronodul...	OMIM:620005
Symptomatic Form Of Hfe-Related Hemochromatosis	Infertility, Arrhythmia, Cirrhosis, Weight loss, Elevated jugular venous pressure, Hepatomegaly, ...	ORPHA:465508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Micrognathia, Atrial septal defect, Hypermetropia, Hypoparathyroidism...	ORPHA:369837
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Cerebral vasculitis, Inc...	OMIM:243700
Pierpont Syndrome	Microcornea, Failure to thrive, Prominent fingertip pads, Short toe, Short finger, Deep plantar c...	OMIM:602342
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Cholestasis, Internally rotated shoulders, Hepatosplenomegaly, Micrognathia, He...	OMIM:619503
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Immunodeficiency 22	Decreased circulating IgG level, Fever, Failure to thrive, Ascites, Decreased circulating IgA lev...	OMIM:615758
Cofs Syndrome	Cataract, Camptodactyly of finger, Hypogonadism, Micrognathia, Talipes, Microphthalmia, Visual im...	ORPHA:1466
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur...	ORPHA:100
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul...	OMIM:249700
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem...	OMIM:152800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgi...	OMIM:619705
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Rift Valley Fever	Melena, Elevated circulating hepatic transaminase concentration, Periodic fever, Hepatitis, Fever...	ORPHA:319251
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Hypotension, Fever, Ascites, Leukopenia, Lethargy, Thromb...	ORPHA:99828
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Unstea...	ORPHA:2585
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Weight loss, Anorexia, Hepat...	ORPHA:781
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Hyperactivity, Microphthalmia...	OMIM:274270
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypercalcemia, Nephrolithiasis, ...	OMIM:143880
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Type I diabetes mellitus, Conjunctivitis, Failure to thrive, Dec...	OMIM:614700
Immunodeficiency 87 And Autoimmunity	Recurrent fever, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Biventricular hypertrophy, He...	OMIM:619573
Pontocerebellar Hypoplasia, Type 14	Dystonia, Chronic neutropenia, Thrombocytopenia	OMIM:619301
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Bilateral microphthalmos, Hypocalcemic tetany, Abnormal circulating follicle-s...	ORPHA:93325
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Recurrent fever, Heat intolerance, Difficulty...	OMIM:612782
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Cataract, Rhizomelia, Congestive heart failure, Respiratory distress, Leukopenia, Microgn...	OMIM:616271
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate...	ORPHA:398124
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Early-Onset Familial Hypoaldosteronism	Hypotension, Failure to thrive, Renal sodium wasting, Hyponatremia, Decreased circulating aldoste...	ORPHA:556030
D-Glyceric Aciduria	Aminoaciduria, Failure to thrive, Opisthotonus, Tongue thrusting, Bradycardia, Micropenis, Elevat...	OMIM:220120
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Conjunctivitis, Decreased circulating antibody level, Int...	OMIM:616740
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype...	ORPHA:276580
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:203330
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ...	ORPHA:276556
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, In...	ORPHA:2905
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Partial development of the penile shaft, Apnea, Hypothermia, Bradycardia, Exaggerated startle res...	OMIM:608800
Papillorenal Syndrome	Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidne...	OMIM:120330
Fanconi Anemia, Complementation Group G	Microphthalmia, Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Isolated Agammaglobulinemia	Fever, Failure to thrive, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Cl...	ORPHA:229717
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi...	OMIM:606367
Occipital Horn Syndrome	Osteomalacia, Cholestasis, Humerus varus, Genu valgum, Hypothermia, Pes planus, Abnormal fibula m...	ORPHA:198
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Methylmalonic aciduria, Failure to thrive, Decreased circulating...	OMIM:275350
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Micrognathia, Talipes equinovarus, Microphthalmia, Visual impairment	OMIM:616171
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Type I diabetes mellitus, Hemophago...	OMIM:301078
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Tach...	ORPHA:98849
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Temperature instability, Hypotension, Oculogyric crisis, Intermittent hypothermia,...	OMIM:608643
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Abnormal circulating protein concentration, Weight loss, Abnormal ...	ORPHA:103910
Alveolar Echinococcosis	Abnormal mesentery morphology, Increased circulating antibody level, Abnormal spleen morphology, ...	ORPHA:284
Leber Congenital Amaurosis 1	Hyperthreoninuria, Keratoconus, Cataract, Blindness, Hyperthreoninemia, Eye poking, Reduced visua...	OMIM:204000
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Small hand, Hypotriglyceridemia, Sandal gap, Astigmatism, Iron deficiency a...	OMIM:618885
Mogs-Cdg	Decreased circulating IgG level, Respiratory distress, Decreased circulating IgA level, Hepatospl...	ORPHA:79330
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insu...	ORPHA:324575
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired...	ORPHA:811
Shigellosis	Hypovolemic shock, Hepatic failure, Acute kidney injury, Fever, Microangiopathic hemolytic anemia...	ORPHA:810
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Mediastinal lymphadenopathy, Osteopenia, Pituitary adenoma, Increased ci...	ORPHA:97289
Atypical Rett Syndrome	Restrictive behavior, Small hand, Pill-rolling tremor, Impaired pain sensation, Inability to walk...	ORPHA:3095
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Cataract, Microcornea, Microphthalmia	ORPHA:2528
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Hypercal...	OMIM:614732
Pseudo-Torch Syndrome 1	Cataract, Elevated circulating hepatic transaminase concentration, Microretrognathia, Failure to ...	OMIM:251290
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Tremor, Aggressive behavior, Ataxia, Dec...	OMIM:612736
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Broad thumb, Mid...	ORPHA:79076
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Hypothermia, Polyphagia, Abn...	ORPHA:293987
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Hyperglycinemia, Letha...	OMIM:614299
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ...	OMIM:615297
Idiopathic Hypereosinophilic Syndrome	Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Myocardial eo...	ORPHA:3260
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Ataxia, Hepatomegaly	OMIM:231000
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase...	ORPHA:77261
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Cataract, Abnormal epiphysis morphology, Brachydactyly, Neutrope...	ORPHA:2643
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Hypocalcemia, Scleros...	ORPHA:64744
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Williams Syndrome	Genu valgum, Megalocornea, Micrognathia, Type II diabetes mellitus, Mitral regurgitation, Overfri...	ORPHA:904
Congenital Fibrinogen Deficiency	Fever, Opisthotonus, Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Developm...	ORPHA:335
Snakebite Envenomation	Epistaxis, Acute kidney injury, Neuromuscular dysphagia, Hypotension, Cardiogenic shock, Pseudobu...	ORPHA:449285
Trichothiodystrophy 3, Photosensitive	Cataract, Failure to thrive, Lymphopenia, Increased circulating IgA level, Abdominal adhesions, N...	OMIM:616395
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Decreased circulat...	OMIM:618116
Castleman Disease	Myelofibrosis, Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Ureteral obstruction, Ren...	ORPHA:160
Zika Virus Disease	Ankle swelling, Fever, Optic disc hypoplasia, Thrombocytopenia, Lens subluxation, Conjunctivitis,...	ORPHA:448237
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Attention deficit hyperac...	OMIM:619151
Prolidase Deficiency	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Micrognathia, S...	OMIM:170100
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Abnormal circulating lipid concentration, Obesity, Micrognathia, Type...	ORPHA:3191
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Ventricular fibrillation, Increased myocardial glycogen content, ST se...	OMIM:261740
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Dilated cardiomyopathy, Paraproteinemia, Difficulty walking, Micrognathi...	ORPHA:171442
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Failure to thrive, Increased circulating IgE level, Decrease...	OMIM:304790
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Hypoplasia of penis, Hypothermia, Arrhythmia	ORPHA:168593
Gray Platelet Syndrome	Epistaxis, Abnormality of thrombocytes, Abnormality of the menstrual cycle, Splenomegaly, Thrombo...	ORPHA:721
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Rhizomelia, Abnormal epiphysis morphology, Micrognathia, Abnormal metaphysis morphology...	ORPHA:93267
Warburg Micro Syndrome 1	Microcornea, Failure to thrive, Overlapping toe, Micrognathia, Developmental cataract, Microphtha...	OMIM:600118
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans...	OMIM:619707
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Hypophosp...	OMIM:307800
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Scorpion Envenomation	Premature ventricular contraction, Arrhythmia, Tachypnea, Ataxia, Tachycardia, Restlessness, Acut...	ORPHA:466677
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Metrorrhagia, Abnormal spleen morphology, Abnormal pelvis bone morphology, Mu...	ORPHA:464329
Velocardiofacial Syndrome	Impaired T cell function, Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect, Talipes, ...	OMIM:192430
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level, Gl...	OMIM:247800
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Corne...	OMIM:613153
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Stevens-Johnson Syndrome	Acute hepatic failure, Weight loss, Visual impairment, Dysphagia, Corneal erosion, Gastrointestin...	ORPHA:36426
Felty Syndrome	Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
Peroxisome Biogenesis Disorder 8B	Cataract, Tip-toe gait, Decreased liver function, Failure to thrive, Elevated circulating phytani...	OMIM:614877
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Clubbing of fingers	OMIM:618973
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Secundum atrial septal defect, Decreased proportion of CD8-posit...	OMIM:611926
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Refsum Disease, Classic	Cataract, Somatic sensory dysfunction, Cardiomyopathy, Congestive heart failure, Elevated circula...	OMIM:266500
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Nephrocalcinosis, Metaphyseal cupping, Clubbing of fingers, Micrognathia, Hyperphosph...	OMIM:156400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Clinodactyly of the 5th finger, Myopia, Decreased circulating antibody level, Hypopr...	ORPHA:1116
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Fever, Cerebral vasculitis, Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroi...	ORPHA:83601
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Metamorphopsia, Blurred vision, Visual field defect, Re...	ORPHA:209956
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ...	ORPHA:860
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Absent gallbladder, Hypocalcemia, Ventricular septal defect, Hydronephr...	OMIM:300712
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig...	ORPHA:221139
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Dysmetria, Tremor, Aggressive behavior, Amblyopia, Thrombocytopenia, Ataxia, Seve...	OMIM:617710
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Hepatitis, Fever, Lymphopenia, Leukopenia, Increased circulating ant...	ORPHA:319218
Acute Lung Injury	Diffuse alveolar hemorrhage, Fever, Abnormality of tumor necrosis factor secretion, Shock, Respir...	ORPHA:178320
Moebius Syndrome	Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Pes plan...	OMIM:157900
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Impaired neutrophil chemotaxis, ...	ORPHA:79318
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Fever, Microangiopathic hemolytic anemia, Ascites, ...	ORPHA:93552
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Megalocornea, Ventricular septal defect, Tachypnea, Microphthalmi...	ORPHA:137675
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Pierpont Syndrome	Microcornea, Short toe, Prominent fingertip pads, Short finger, Abnormality of the plantar skin o...	ORPHA:487825
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Short tibia, Finger synda...	ORPHA:1106
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Renal hypoplasia/...	ORPHA:84
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ...	OMIM:277440
Bleeding Disorder, Platelet-Type, 19	Epistaxis, Thrombocytopenia, Anemia, Macrothrombocytopenia, Menorrhagia	OMIM:616176
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Hip contracture, Abnormal renal cortex morphology, Abnormality of the kidney,...	ORPHA:464321
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Splenomegaly, Lym...	ORPHA:397596
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Cataract, Elevated circulating hepatic transaminase concentration, Difficulty walking, Chorea, Ab...	ORPHA:369840
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d...	OMIM:616468
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me...	OMIM:557000
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Paroxysmal Extreme Pain Disorder	Tachycardia, Impaired pain sensation, Bradycardia	OMIM:167400
Isovaleric Acidemia	Bone marrow hypocellularity, Hyperglycinuria, Pancytopenia, Leukopenia, Lethargy, Cerebellar hemo...	OMIM:243500
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Biotinidase Deficiency	Organic aciduria, Apnea, Visual loss, Hyperammonemia, Splenomegaly, Lethargy, Tachypnea, Ataxia, ...	OMIM:253260
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Fever, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, ...	ORPHA:520
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Weight loss, Glomerular sclerosis, Paraganglioma of head and neck, Aniridia, Palpitati...	ORPHA:29072
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cataract, Hypospadias, Elevated circulating hepatic transaminase concentration, Small for gestati...	OMIM:615471
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure...	OMIM:222700
Specific Granule Deficiency 2	Osteopenia, Failure to thrive, Sandal gap, Absent neutrophil specific granules, Brachydactyly, Th...	OMIM:617475
Phosphoglycerate Dehydrogenase Deficiency	Developmental cataract, Megaloblastic anemia, Adducted thumb, Thrombocytopenia	OMIM:601815
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent fever, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Ataxia, Hepatomegaly, Elevated ci...	OMIM:615688
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Immunodeficiency 40	Eosinophilic granuloma, Recurrent fever, Elevated circulating aspartate aminotransferase concentr...	OMIM:616433
Mmep Syndrome	Ventricular septal defect, Triphalangeal thumb, Microphthalmia, Visual impairment, Split foot	ORPHA:3434
Aicardi-Goutieres Syndrome 7	Pancytopenia, Hepatic steatosis, Increased circulating antibody level, Weight loss, Hepatomegaly,...	OMIM:615846
Igg4-Related Pachymeningitis	Nephritis, Diplopia, Lymphadenitis, Somatic sensory dysfunction, Increased circulating IgG4 level...	ORPHA:449427
Pseudohypoaldosteronism, Type Iic	Decreased circulating renin level, Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia, Hyperte...	OMIM:614492
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Anorexia, Nephrotic syndrome, Cataract,...	ORPHA:324
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple...	OMIM:606003
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho...	OMIM:616963
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hype...	ORPHA:73224
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Cataract, Hypopnea, Failure to thrive, Apnea, 3-Methylglutaconic acidu...	OMIM:617248
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Thyrocerebrorenal Syndrome	Nephritis, Euthyroid goiter, Renal insufficiency, Thrombocytopenia, Nonprogressive cerebellar ataxia	ORPHA:3327
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Slender finger, Hemiatrophy of upper limb, Oligosacchariduria, Micrognathia, Delayed pa...	ORPHA:163649
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Failure to thrive, Elevated circulating creatine kinase concentra...	OMIM:619055
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Lymphopenia, Pancytopenia, Micrognathia, Ventricular septal defect, Bicu...	OMIM:620654
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choled...	ORPHA:480520
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular...	OMIM:201170
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent fever, Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, Diffuse mes...	OMIM:102700
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Cutaneous syndactyly of toes, Vesicoureteral reflux,...	OMIM:619217
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Acute myeloid leukemia,...	OMIM:617052
Microphthalmia, Isolated 5	Cataract, Reduced visual acuity, Nyctalopia, Microphthalmia, Photophobia, High hypermetropia	OMIM:611040
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hand clenching, Fever, Corneal scarring, Hyperpyrexia, Apnea, Ventricular septal defect, Hyperten...	OMIM:614653
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Hepatosplen...	OMIM:608233
Schwartz-Jampel Syndrome, Type 1	Micrognathia, Hip contracture, Bowing of the long bones, Talipes equinovarus, Pes planus, Abnorma...	OMIM:255800
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Dilatation of the renal pel...	ORPHA:95699
Fanconi Renotubular Syndrome 3	Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-...	OMIM:615605
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Recurrent fever, Lymphopenia, Chorea, Thrombocytopenia, Hemolytic anemia	OMIM:616744
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration	OMIM:620478
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Micrognathia, Rocker bottom foot, Microphthalmia	OMIM:616570
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Reduced visual acu...	OMIM:609218
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Abnormality of the kidney, Increased...	ORPHA:284227
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Blindness, Elevated circulating creatine kinase concentration, Microphthalmia, Myopia, ...	OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Micrognathia, Astigmatism, Knee flexion contracture, Down-sloping shoulders, Amblyopia,...	OMIM:619694
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Rere-Related Neurodevelopmental Syndrome	Self-injurious behavior, Iris coloboma, Hypospadias, Peters anomaly, Abnormal heart morphology, M...	ORPHA:494344
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Cataract, Congestive heart failure, Tricuspid regurgitation, Lymphop...	ORPHA:508542
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Gamma-Heavy Chain Disease	Fever, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, L...	ORPHA:100026
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Polydipsia,...	ORPHA:537
Coats Disease	Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Arrhythmia, Ataxia, Bradykinesia, Visual impairment, Dysphagia, Cataract, Goiter,...	ORPHA:254892
Juvenile Neuronal Ceroid Lipofuscinosis	Non-periodic recurrent fever, Abnormal heart morphology, Episodic tachypnea, Apnea, Blindness, Vi...	ORPHA:79264
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi...	OMIM:251230
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Mitral valve prolapse, Hematu...	ORPHA:730
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Hyp...	OMIM:241530
Cerebrooculofacioskeletal Syndrome 1	Cataract, Deep longitudinal plantar crease, Failure to thrive, Micrognathia, Knee flexion contrac...	OMIM:214150
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Sinus tachycardia, Conges...	ORPHA:276621
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Apnea, Hyperglycinemia, Agitation, Partial atrioventricular canal defec...	OMIM:620423
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Polydactyly, Ventricular septal defect, Microphthalmia, Leukemia, Syndactyly	OMIM:602501
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hematuria, Reduced visual acuity, Hyp...	OMIM:219800
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Myopia, Visual impairment, Microphthalmia	ORPHA:1574
Immunodeficiency 70	Decreased circulating total IgG, Plantar warts, Decreased proportion of CD4-positive helper T cel...	OMIM:618969
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:612301
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b...	OMIM:611490
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Failure t...	OMIM:613989
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Pseudohypoaldosteronism, Type Iib	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614495
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Recurrent fever, Failure to thrive in infancy, Leukocytosis, Increased proportion of ...	OMIM:617099
Down Syndrome	Keratoconus, Type II diabetes mellitus, Decreased fertility, Acute megakaryocytic leukemia, Renal...	ORPHA:870
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Familial Isolated Hyperparathyroidism	Osteopenia, Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal insufficiency...	ORPHA:99879
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Blindness, Hydronephrosis, Megaloblastic anemia, Neutropenia, ...	OMIM:598500
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Absent thumb, Renal agenesis, Short thumb, Male infertility, Horses...	OMIM:227650
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia, Abnormal abdomen morphology, Nephro...	OMIM:211000
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Hyperostosis, Periostosis, Clubbing	OMIM:614441
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Recurrent fever, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B l...	OMIM:150550
Pseudohypoaldosteronism, Type Iie	Hypertension, Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614496
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Abnormality of T ce...	ORPHA:2237
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Broad-based gait, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, ...	OMIM:616541
Fanconi Anemia, Complementation Group D2	Pancytopenia, Neutropenia, Absent radius, Duplicated collecting system, Leukemia, Microphthalmia,...	OMIM:227646
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Fever, Decreased circula...	OMIM:618394
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Visual loss, Ventricular septal defect, Pes planus, Myopia, Apla...	ORPHA:85194
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Cardiomyopathy, Urinary bladder sphincter dysfunction, Congestive heart failure, Hepati...	ORPHA:52430
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrh...	ORPHA:906
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Microphthalmia, Visual impairment, I...	ORPHA:1473
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Bilateral microphthalmos, Abnormal foot morphology, Abnormal heart morphology, Over...	ORPHA:369891
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP...	OMIM:618462
Illum Syndrome	Temperature instability, Apnea, Calcinosis, Bradycardia	OMIM:208155
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, He...	OMIM:612541
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Osteomalacia, Micrognathia, Genu valgum, Hematuria, Hypophosphatemia, Proximal renal...	ORPHA:534
Camurati-Engelmann Disease	Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pes planus, Metaphyseal dysplasi...	ORPHA:1328
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Cataract, Elevated circulating long chain fatty acid concentration, Failure to thr...	OMIM:214110
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Elevated circulating hepatic transaminase concentration, Failure to thrive, Microcytic ...	OMIM:612379
Aicardi-Goutieres Syndrome 1	Vasculitis, Elevated circulating hepatic transaminase concentration, Fever, Cardiomyopathy, Inabi...	OMIM:225750
Martsolf Syndrome 1	Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Microphthalmia, Finger joint hype...	OMIM:212720
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Renal hypoplasia, Sandal gap, Micrognathia, Joint contracture of the 5th...	OMIM:618914
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Micrognathia, Ureteropelvic junction obstruction, ...	OMIM:154230
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Inability to walk, Cerebral visual impairment, Thrombocytopenia, Visual impair...	OMIM:616577
Mitochondrial Complex I Deficiency, Nuclear Type 37	Failure to thrive, Respiratory distress, Opisthotonus, Pulmonary arterial hypertension, Bradycard...	OMIM:619272
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Tachypnea, Elevat...	ORPHA:1329
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Lissencephaly 8	Microphthalmia, Cataract, Talipes equinovarus, Elevated circulating creatine kinase concentration	OMIM:617255
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Tachypnea, Anorexia, Ataxia, Hepatomegaly, Tip-toe gait, Lacticacidu...	ORPHA:3008
Agammaglobulinemia, X-Linked	Cor pulmonale, Decreased circulating IgG level, Conjunctivitis, Recurrent urinary tract infection...	OMIM:300755
Kikuchi-Fujimoto Disease	Vasculitis, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpholo...	ORPHA:50918
Congenital Muscular Dystrophy With Cerebellar Involvement	Cataract, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Blindness, Elevated circulat...	ORPHA:370959
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Failure to thrive, Microphallus, Sho...	OMIM:603467
Monosomy 13Q34	Hematochezia, Epistaxis, Postaxial foot polydactyly, Obesity, Micrognathia, Hepatic steatosis, Me...	ORPHA:96168
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Microphthalmia, Visual impairment, S...	ORPHA:85167
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Patent foramen ovale, Atrial septal defect, Dysphagia, A...	ORPHA:89844
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, H...	OMIM:174000
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary 3-hydroxybutyric acid...	OMIM:614105
Blue Diaper Syndrome	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Ele...	ORPHA:94086
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Holocarboxylase Synthetase Deficiency	Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Lethargy, 3-hyd...	OMIM:253270
Myotonic Dystrophy 2	Decreased circulating IgG level, Posterior subcapsular cataract, Hypogonadism, Palpitations, Type...	OMIM:602668
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Genu valgum...	OMIM:259710
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Oliguria, Right ventricular failure, Abnormal lef...	ORPHA:97292
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial pol...	OMIM:616300
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Bradycard...	OMIM:610768
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Aggressive behavior, Attention deficit hy...	OMIM:152950
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m...	ORPHA:464343
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Failure to thrive, Hypokalemia, Anemia, Clubbing	OMIM:174900
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Abnorm...	OMIM:600901
Sandhoff Disease	Urinary incontinence, Impaired temperature sensation, Hepatosplenomegaly, Increased urinary N-ace...	OMIM:268800
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis, Ataxia, Hepatomegaly, Autoimmu...	ORPHA:77293
Temtamy Syndrome	Aortic regurgitation, Ectopia lentis, Micrognathia, Self-mutilation, Talipes equinovarus, Pes pla...	OMIM:218340
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re...	ORPHA:2260
Lig4 Syndrome	Failure to thrive, Pancytopenia, Plantar warts, Type II diabetes mellitus, Astigmatism, Telangiec...	OMIM:606593
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97283
Cockayne Syndrome	Lentiglobus, Difficulty walking, Absence of pubertal development, Action tremor, Cachexia, Hyperm...	ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Self-injurious behavior, Broad-based gait, Fixated interests, Toe clinodactyl...	OMIM:620330
Hyperparathyroidism 4	Osteopenia, Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism	OMIM:617343
Platelet Signal Processing Defect	Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced...	OMIM:173590
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Abnormali...	ORPHA:543
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Tachy...	ORPHA:2041
Thrombocytopenia 1	Decreased mean platelet volume, Epistaxis, Increased circulating IgE level, Increased circulating...	OMIM:313900
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
High Altitude Pulmonary Edema	Fever, Leukocytosis, Tachypnea, Anorexia, Tachycardia	ORPHA:330012
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, Micrognath...	OMIM:242860
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Osteopenia, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopen...	OMIM:613990
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Fever, Fatigable wea...	ORPHA:101096
Idiopathic Chronic Eosinophilic Pneumonia	Fever, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss, Elevated ci...	ORPHA:2902
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Duplicated collecting system, Absent thumb, Renal agenesis, Short th...	OMIM:227645
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo...	ORPHA:79329
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141179
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	High hypermetropia, Microphthalmia	OMIM:251700
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Micrognathia, Absent gallbladder, Complet...	OMIM:617925
Microphthalmia, Isolated 6	Microcornea, High hypermetropia, Amblyopia, Microphthalmia	OMIM:613517
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Hepatosplenomegaly, Micrognathia, Mitral regurgitation, Ventricular septal defect, T...	OMIM:614866
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Keratoconjunctivitis, Poikilocytosis, Unconjugated hyperbilirubinemia,...	ORPHA:79277
Nanophthalmos	High hypermetropia, Microphthalmia	ORPHA:35612
Infantile Myofibromatosis	Osteolysis, Hypercalcemia, Abnormal metaphysis morphology, Abnormality of the kidney, Bone cyst, ...	ORPHA:2591
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Inability to walk, Micrognathia, Apnea, High...	ORPHA:97297
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Increased circulating IgE level, Eosinophilia, Clubbing, Craniosynostosis, Hip disloca...	OMIM:618523
Congenital Sialidosis Type 2	Cataract, Abnormal EKG, Ascites, Abnormal heart morphology, Hepatosplenomegaly, Visual loss, Dysm...	ORPHA:93400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Hermansky-Pudlak Syndrome 5	Epistaxis, Ocular albinism, Impaired ADP-induced platelet aggregation, Metrorrhagia, Hypoplasia o...	OMIM:614074
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Respiratory distress, Hepatosplenomegaly, Akinesia, Micrognathia, Splen...	OMIM:608013
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Clinodactyly, Brachydactyly, Ocular anterior segment dysgenesis, Microphthalmia, ...	OMIM:610023
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Subcapsular cataract, P...	OMIM:203800
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Atrial Standstill 2	Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Infant Acute Respiratory Distress Syndrome	Hypotension, Tachypnea, Bradycardia, Tachycardia, Cardiac arrest, Nasal flaring	ORPHA:70587
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Visual impairment, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myelo...	OMIM:616435
Trisomy 13	Cataract, Abnormal pelvic girdle bone morphology, Abnormality of vision, Ectrodactyly, Abnormalit...	ORPHA:3378
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141184
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Pulmonary arterial hypertension, Atrial...	OMIM:300887
Caffey Disease	Hyperesthesia, Fever, Cortical irregularity, Periosteal thickening of long tubular bones, Increas...	ORPHA:1310
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Ventricular septal defect, Microphthalmia, Hepatomegaly, Ectopic kidney, Cystic renal d...	OMIM:613730
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Abnormal circulating interferon-gamma concentration, Autoimmune ...	ORPHA:391487
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Erdheim-Chester Disease	Polydipsia, Fever, Abnormal epiphysis morphology, Congestive heart failure, Abnormal pericardium ...	ORPHA:35687
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Granuloma, Ch...	ORPHA:562639
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to th...	OMIM:620609
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Clinodactyly, Hyperinsulinemia, M...	OMIM:620185
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Osteopenia, Intestinal bleeding, Metaphyseal sclerosis, Genu valgum,...	OMIM:612199
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polyd...	OMIM:263520
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Inability to walk, Abnorma...	OMIM:618494
Johanson-Blizzard Syndrome	Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Atrial se...	OMIM:243800
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus...	ORPHA:542306
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Leg dystonia, Ankle clonus, Loss of ambulation, Prominent calcaneus, Bradycardia	ORPHA:565624
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Congenital thrombocytopenia, Neut...	OMIM:616738
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Visual impairment, Abnormal natural killer cell morphology, Overlapping fingers, B lymphocytopeni...	OMIM:615966
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Urinary glycosaminoglycan excretion, Genu valgum, Abnormal mitral valv...	ORPHA:581
Joubert Syndrome 7	Nephronophthisis, Episodic tachypnea, Genu valgum, Stage 5 chronic kidney disease, Postaxial poly...	OMIM:611560
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Inability to walk, Limb dystonia, High nonceruloplasmin-bound serum copp...	ORPHA:457351
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ...	OMIM:613839
Cocaine Intoxication	Hematuria, Tachypnea, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Acute kidney...	ORPHA:90068
Developmental And Epileptic Encephalopathy 101	Opisthotonus, Apnea, Third degree atrioventricular block, Bradycardia	OMIM:619814
Dubowitz Syndrome	Decreased circulating IgG level, Hypospadias, Aplastic anemia, Megalocornea, Hypoplasia of the ir...	OMIM:223370
Menkes Disease	Gastrointestinal hemorrhage, Chorea, Micrognathia, Tarsal synostosis, Hypothermia, Bowing of the ...	ORPHA:565
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino...	OMIM:145001
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Decreased circulating IgA level...	OMIM:616638
Nanophthalmos 4	Reduced visual acuity, Hypermetropia, Microphthalmia	OMIM:615972
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Difficulty walking, Overlapping t...	ORPHA:464738
Degcags Syndrome	Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegal...	OMIM:619488
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Hematuria, Su...	OMIM:185070
Inflammatory Pseudotumor Of The Liver	Fever, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, ...	ORPHA:90003
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersp...	OMIM:230800
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd...	OMIM:127550
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Tremor, Lethargy, Gait disturbance, Tach...	ORPHA:765
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen...	OMIM:242700
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Ventricular septa...	ORPHA:124
Cyclic Neutropenia	Recurrent tonsillitis, Recurrent fever, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia...	ORPHA:2686
Biemond Syndrome Type 2	Preaxial polydactyly, Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Micr...	ORPHA:141333
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Reduced visual acuity, Microphthalmia, Hypoplastic inferior ilia, Short metacar...	OMIM:608940
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Moyamoya Disease 6 With Or Without Achalasia	Impotence, Ischemic stroke, Dysphagia, Raynaud phenomenon, Thrombocytopenia, Hypertension	OMIM:615750
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Malignant hyperthermia, Hyperphos...	ORPHA:423
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly	OMIM:246570
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Osteoscl...	OMIM:602080
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Proximal Spinal Muscular Atrophy	Absent patellar reflexes, Difficulty walking, Inability to walk, Hypoventilation, Knee flexion co...	ORPHA:70
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a...	OMIM:614520
Temtamy Syndrome	Short toe, Micrognathia, Pes planus, Brachydactyly, Microphthalmia, Clinodactyly of the 5th finge...	ORPHA:1777
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Severe failure to thrive, Arrhythmia, Hypermetropia, ...	OMIM:133540
Bleeding Disorder, Platelet-Type, 20	Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Hypermetropia, Nyctalopia, Microphthalmia, Shallow anter...	OMIM:267760
Familial Dysautonomia	Malignant hyperthermia, Impaired pain sensation, Abnormal pupil morphology, Renal insufficiency, ...	ORPHA:1764
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Tetr...	OMIM:222765
Methionine Malabsorption Syndrome	Aminoaciduria, Positive ferric chloride test, Tachypnea, Blue irides	OMIM:250900
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Elevated circulating hepatic transaminase c...	OMIM:619463
Peroxisome Biogenesis Disorder 9B	Cataract, Cardiomyopathy, Elevated circulating phytanic acid concentration, Constriction of perip...	OMIM:614879
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T...	OMIM:618213
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Respiratory distress, Elevated circulating carcinoembryonic antigen...	ORPHA:264675
Joubert Syndrome 9	Hepatic fibrosis, Cataract, Episodic tachypnea, Stage 5 chronic kidney disease, Apnea, Astigmatis...	OMIM:612285
Juvenile Sialidosis Type 2	Cataract, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Visual loss, Dysmetria, L...	ORPHA:93399
Schwartz-Jampel Syndrome	Abnormality of the ureter, Micrognathia, Genu valgum, Hip contracture, Decreased body weight, Bow...	ORPHA:800
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Pulmonary hemorrhage, Mesangial hypercellularity, Tachypnea, Elevated circulating C-reactive prot...	OMIM:616414
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Abnormal circulating aldosterone, Decreased cir...	OMIM:300539
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Cardiocranial Syndrome, Pfeiffer Type	Slender finger, Cutaneous syndactyly of toes, Plantar flexion contracture, Contracture of the pro...	ORPHA:2872
Hereditary Folate Malabsorption	Failure to thrive, Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic ...	ORPHA:90045
Cohen Syndrome	Finger syndactyly, Sandal gap, Failure to thrive in infancy, Obesity, Micrognathia, Genu valgum, ...	ORPHA:193
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I...	ORPHA:289390
Alpha-Mannosidosis, Adult Form	Ataxia, Cataract, Osteopenia, Aortic regurgitation, Oligosacchariduria, Hepatosplenomegaly, Pancy...	ORPHA:309288
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th...	OMIM:231095
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Thyrocerebroretinal Syndrome	Nephritis, Goiter, Thrombocytopenia, Ataxia	OMIM:274240
Cardiomyopathy, Dilated, 1Ii	Cataract, Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase conc...	OMIM:615184
Microphthalmia/Coloboma 5	Abnormality of vision, Bilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:611638
Frontonasal Dysplasia 1	Cataract, Clinodactyly, Radial deviation of finger, Tetralogy of Fallot, Microphthalmia, Brachyda...	OMIM:136760
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Cataract, Microcornea, Failure to thrive, Toe syndacty...	ORPHA:46059
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re...	OMIM:179830
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Optic nerve hypoplasia, Micrognathia, ...	ORPHA:261250
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Cataract, Infection associated neutropenia, Elevated circulating hep...	ORPHA:445038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Dilated cardiomyopathy, Microphthalmia, Elevated circulating creatine kinase concentrat...	OMIM:253800
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Knee flexion contracture, Ventricular s...	ORPHA:435638
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Acquired Purpura Fulminans	Hepatic failure, Shock, Internal hemorrhage, Thrombocytopenia, Elevated circulating C-reactive pr...	ORPHA:49566
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Transketolase Deficiency	Self-injurious behavior, Cataract, Type I diabetes mellitus, Increased level of ribose in urine, ...	ORPHA:488618
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Cataract, Failure to thrive, Mic...	OMIM:301108
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Autoi...	ORPHA:436159
Dent Disease	Renal hypophosphatemia, Chronic kidney disease, Renal phosphate wasting, Delayed epiphyseal ossif...	ORPHA:1652
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract i...	ORPHA:169105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o...	OMIM:616812
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Micrognathia, Congenital hepatic fibrosis, Increa...	ORPHA:731
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Aminoaciduria, Nephrocalcinosis, Periodic fever, Cardiomyopathy, Sideroblastic anemia, Sp...	OMIM:616084
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno...	OMIM:609981
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Chorea, Limb ataxia, Gait ataxia, Pes cavus...	OMIM:606002
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Anterior lenticonus, Glomerular basement membrane lamella...	OMIM:301050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat...	OMIM:600802
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Broad foot, Reduced visual acuity, Abnormality of the kidney, Ataxia,...	OMIM:209900
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl...	OMIM:139090
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Insulin Autoimmune Syndrome	Weight loss, Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Increased circul...	ORPHA:411593
Aspergillosis	Keratitis, Hepatitis, Fever, Increased circulating IgE level, Abnormal long bone morphology, Eosi...	ORPHA:1163
Ogden Syndrome	Torsade de pointes, Hyperbilirubinemia, Micrognathia, Ventricular septal defect, Bicuspid aortic ...	OMIM:300855
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asymmetry, Abnormal heart ...	ORPHA:404440
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Fever, Pulmonary hemorrhage, Renal insuff...	OMIM:233450
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Preaxial foo...	ORPHA:1988
Dk Phocomelia Syndrome	Phocomelia, Thrombocytopenia	OMIM:223340
Leptospirosis	Acute kidney injury, Hypotension, Subconjunctival hemorrhage, Hepatitis, Fever, Respiratory distr...	ORPHA:509
Lowe Oculocerebrorenal Syndrome	Finger swelling, Osteomalacia, Genu valgum, Reduced visual acuity, Proximal renal tubular acidosi...	OMIM:309000
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Senior-Loken Syndrome 1	Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn...	OMIM:266900
Parathyroid Carcinoma	Shortened QT interval, Abnormal parathyroid morphology, Hypophosphatemia, Weight loss, Dysphagia,...	ORPHA:143
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
1Q21.1 Microdeletion Syndrome	Cataract, Toe syndactyly, Broad thumb, Failure to thrive, High hypermetropia, Clinodactyly of the...	ORPHA:250989
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Hip dysplasia, Microphthalmia, Abnormal localization of...	ORPHA:195
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hyperphosphatemia, Polydipsia, Elevated circulating parathyroid hormone level, Hyperc...	OMIM:617994
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatic failure, Elevated circulating hepatic transaminase concentr...	ORPHA:415
Orofaciodigital Syndrome Ix	Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia	OMIM:258865
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
African Trypanosomiasis	Difficulty walking, Hepatosplenomegaly, Arrhythmia, Weight loss, Hepatomegaly, Jaundice, Urinary ...	ORPHA:3385
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Elevated 8(9)-ch...	OMIM:302960
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri...	ORPHA:99106
Trichothiodystrophy	Ventricular septal defect, Neutropenia, Clubbing, Increased bone mineral density, Osteopenia, Mic...	ORPHA:33364
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Small hand, Clinodactyly, Aortic valve prolapse, Ventricular septal...	OMIM:619980
Cockayne Syndrome Type 3	Lentiglobus, Difficulty walking, Hypermetropia, Microphthalmia, Hepatomegaly, Unsteady gait, Corn...	ORPHA:90324
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Tetralogy of Fallot, Preaxial...	OMIM:147750
Williams-Beuren Syndrome	Obsessive-compulsive trait, Mitral valve prolapse, Ventricular septal defect, Mitral regurgitatio...	OMIM:194050
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Acute Radiation Syndrome	Cataract, Hypotension, Fever, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg...	OMIM:266920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Elevated circulating creatine kinase concentration, Reduced vis...	OMIM:615249
21Q22.11Q22.12 Microdeletion Syndrome	Self-injurious behavior, Acromesomelia, Clinodactyly, Failure to thrive in infancy, Bruxism, Ster...	ORPHA:261323
Congenital Varicella Syndrome	Cataract, Micromelia, Microphthalmia	ORPHA:291
Chilblain Lupus	Chronic myelomonocytic leukemia, Finger swelling, Raynaud phenomenon, Increased circulating antib...	ORPHA:90280
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Dilated cardiomyopathy, Recurrent fever, Generalized dystonia, Chorea, Pancytopenia, Ga...	OMIM:618321
Fanconi Anemia, Complementation Group S	Failure to thrive, Clinodactyly, Microphthalmia, Ataxia, Anemia, Proximal placement of thumb	OMIM:617883
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Ectopia lentis, Short thumb, Genu valgum, Flexion contracture of the 4th t...	ORPHA:2712
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic...	OMIM:614946
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Ataxia, Decreased circulating t...	OMIM:300861
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Cryoglobulinemia, Proteinu...	OMIM:123550
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Bcard Syndrome	Cataract, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypopl...	OMIM:612394
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Difficulty walking, Positional foot deformity, Limb dystonia, Dysmetria, Tremor, ...	ORPHA:572798
Incontinentia Pigmenti	Cataract, Keratitis, Finger syndactyly, Deviation of finger, Congestive heart failure, Camptodact...	ORPHA:464
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Myopia, Hypoc...	OMIM:616959
Mosaic Trisomy 9	Endocardial fibroelastosis, Micrognathia, Ventricular septal defect, Talipes equinovarus, Atrial ...	ORPHA:99776
Congenital Syphilis	Cataract, Periostitis, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial bowing...	ORPHA:499009
Lathosterolosis	2-3 toe cutaneous syndactyly, Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating la...	OMIM:607330
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Failure to thrive, Thrombocytopenia, Respiratory distress	OMIM:615597
Stt3B-Cdg	Micropenis, Failure to thrive, Thrombocytopenia, Respiratory distress	ORPHA:370924
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating hepatic transa...	OMIM:620138
Sandestig-Stefanova Syndrome	Clinodactyly, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Devel...	OMIM:618804
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Visual impairment, Microphthalmia	OMIM:251270
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria,...	OMIM:239199
Arima Syndrome	Postaxial foot polydactyly, Hepatic steatosis, Hematuria, Tachypnea, Cirrhosis, Tubulointerstitia...	OMIM:243910
Adamantinoma	Hypercalcemia	ORPHA:55881
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Micrognathia, Developmental cataract, Microphthalmia, Micropen...	OMIM:610756
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Stomatocytosis, Inability to walk, Splenomegaly, Conjugated hyperbili...	OMIM:608885
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con...	ORPHA:449432
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani...	ORPHA:85212
Joubert Syndrome With Oculorenal Defect	Nephropathy, Apnea, Renal insufficiency, Blindness, Hand polydactyly, Tachypnea, Ataxia, Foot pol...	ORPHA:2318
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u...	ORPHA:348
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97261
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Nijmegen Breakage Syndrome	Sandal gap, Recurrent urinary tract infections, Micrognathia, Autoimmune hemolytic anemia, Conjun...	OMIM:251260
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Deviation of finger, Microcy...	ORPHA:903
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dystonia, Dysphagia, Choreoathetosis	OMIM:308350
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Hemolytic anemia, Pericarditis	OMIM:152700
Ppoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97278
Congenital Disorder Of Glycosylation, Type It	Micrognathia, Hepatic steatosis, Ventricular septal defect, Elevated circulating alanine aminotra...	OMIM:614921
Glucose-Galactose Malabsorption	Fever, Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalc...	ORPHA:35710
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Diplopia, Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, De...	ORPHA:293978
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoparat...	ORPHA:235
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Increased circulating interferon-gamma concentration	OMIM:612952
Adult Idiopathic Neutropenia	Fever, Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F...	OMIM:300009
Deeah Syndrome	Impaired pain sensation, Exocrine pancreatic insufficiency, Decreased response to growth hormone ...	OMIM:619004
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Pes planus, Atrial septal defect, Absent ...	OMIM:607323
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Cataract, Coarse metaphyseal trabecularization, Pal...	ORPHA:1775
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Neurooculocardiogenitourinary Syndrome	Peters anomaly, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiom...	OMIM:618652
Sézary Syndrome	Palmoplantar keratoderma, Abnormal lymphocyte morphology, Splenomegaly, Tremor, Abnormal immunogl...	ORPHA:3162
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Diamond-Blackfan Anemia 21	Aortic regurgitation, Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydac...	OMIM:620072
Warburg Micro Syndrome 3	Cataract, Microcornea, Inability to walk, Micrognathia, Ankle clonus, Cerebral visual impairment,...	OMIM:614222
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Fever, Leukocytosis, Splenomegaly, Abnormal basophil morphology,...	ORPHA:521
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, Corn...	OMIM:263700
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Micrognathia, Anophthalmia, Ventricular septal defect, Microphthalmia	OMIM:615524
Osteogenesis Imperfecta	Abnormal tibia morphology, Micrognathia, Genu valgum, Mitral valve prolapse, Decreased skull ossi...	ORPHA:666
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Difficulty walk...	OMIM:610978
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F...	OMIM:300554
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Dysmenorrhea, Decreased fert...	ORPHA:90796
Japanese Encephalitis	Genu recurvatum, Pill-rolling tremor, Fever, Anorexia, Respiratory distress, Tremor, Increased ci...	ORPHA:79139
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Cataract, Multicystic kidney dysplasia, Abnormality of vision, Ascites, Mic...	ORPHA:1052
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Pes...	ORPHA:508498
3Q29 Microdeletion Syndrome	Cataract, Failure to thrive, Horseshoe kidney, Aggressive behavior, Attention deficit hyperactivi...	ORPHA:65286
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Polydipsia, Renal hamartoma, Sh...	ORPHA:99880
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Cataract, Microretrognathia, Failure to thrive, Hypertrophic cardiomyopathy, Hyperammonemia, 3-Me...	OMIM:614052
Holoprosencephaly	Abnormality of the spleen, Anophthalmia, Ventricular septal defect, Talipes, Arrhythmia, Micropht...	ORPHA:2162
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Spondyloenchondrodysplasia With Immune Dysregulation	Short iliac bones, Lymphopenia, Sclerosis of skull base, Metaphyseal sclerosis, T lymphocytopenia...	OMIM:607944
Combined Immunodeficiency Due To Crac Channel Dysfunction	Fever, Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hem...	ORPHA:169090
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate...	ORPHA:97214
Braddock-Carey Syndrome 2	Clinodactyly, Thrombocytopenia, Microphthalmia	OMIM:619981
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,...	OMIM:619774
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Short distal phalanx of finger, Optic nerve hypoplasia, Hypoplastic cervical vertebrae,...	ORPHA:79345
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Micrognathia, Atrioventricular dissociation, ...	OMIM:142900
Oculodentodigital Dysplasia	Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal defect, Arrhyth...	ORPHA:2710
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Large for gestational age, Ventricular septal defect, Hydronephrosis...	OMIM:610733
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Igg4-Related Dacryoadenitis And Sialadenitis	Fever, Increased circulating IgG4 level, Blindness, Increased circulating IgA level, Keratoconjun...	ORPHA:79078
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Impaired temperature sensation, Hepatosplenomegaly...	ORPHA:31150
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Cornelia De Lange Syndrome 1	Micrognathia, Ventricular septal defect, Dislocated radial head, Ectopic kidney, Hypospadias, Sel...	OMIM:122470
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Micrognathia, Decreased heart rate variability, Self-mutilation, Decreas...	OMIM:619005
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, High myopia, Hyperechoge...	OMIM:617941
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Twelfth rib hypoplasia, Micrognathia, Tachypnea, Hypospadias, Renal dysplasia, Cone-shaped epiphy...	ORPHA:397715
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Recurrent fever, Tricuspid regurgitation, Mitral regurgitation, Sinus bra...	OMIM:261990
Nance-Horan Syndrome	Cataract, Microcornea, Visual loss, Microphthalmia, Visual impairment, Short metacarpal	ORPHA:627
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Eosinophi...	ORPHA:449563
Thrombocytopenia 10	Decreased mean platelet volume, Menorrhagia, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:620484
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Microphthalmia	OMIM:300915
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Decreased renal tubular p...	OMIM:211900
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Increased circulating ferritin concentration, Head titubation, Thrombocytopenia, Hypochromic micr...	ORPHA:3240
Jacobsen Syndrome	Iris coloboma, Microcornea, Annular pancreas, Failure to thrive, Micrognathia, Ventricular septal...	OMIM:147791
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bowing of the long...	ORPHA:3103
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Joubert Syndrome 3	Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Central apnea, Atrial septa...	OMIM:608629
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Decreased skull ossification, Ventricu...	ORPHA:3472
Myoclonic-Astatic Epilepsy	Tremor, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Microphthalmia, Unsteady...	ORPHA:1942
Microphthalmia, Isolated 1	High hypermetropia, Anophthalmia, Microphthalmia	OMIM:251600
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Microphthalmia, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Mend Syndrome	Aortic valve stenosis, Cataract, Failure to thrive, Broad hallux, Abnormal heart morphology, Elev...	ORPHA:401973
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Microretrognathia, Difficulty walking, Inability to walk, Abnormal heart morphology, Ov...	OMIM:618571
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Failure to thrive, Abnormal leukocyte morphology, Thrombocytopenia, ...	ORPHA:3322
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnodactyly, Hepatic...	ORPHA:1692
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Micrognathia, Clinodactyly of the 5th finger, Decreased body weight, Osteo...	OMIM:617306
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Decreased circulating IgG level, Osteopenia, Posterior subcapsular cataract, Rhizomeli...	OMIM:271510
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Atrial septal defect, Neutr...	OMIM:105650
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Aplastic anemia, Renal agenesis, Absent thumb, Optic disc hypoplasia, H...	OMIM:300514
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Microphthalmi...	ORPHA:139471
Familial Exudative Vitreoretinopathy	Cataract, Blindness, Vitreous floaters, Vitreous hemorrhage, Reduced visual acuity, Retinal neova...	ORPHA:891
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Ocular albinism	OMIM:614171
Solitary Fibrous Tumor	Diplopia, Urinary retention, Fever, Pelvic mass, Hypophosphatemic rickets, Neoplasm of the liver,...	ORPHA:2126
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Elevated circulating thyroid-stimulating hormone concentration, F...	OMIM:601812
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Right ventricular failure, Fever, Stippled calcification in carpal bones...	ORPHA:60025
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Meckel Syndrome, Type 8	Hyperechogenic kidneys, Anophthalmia, Polydactyly, Talipes equinovarus, Microphthalmia, Pericardi...	OMIM:613885
Walker-Warburg Syndrome	Cataract, Microcornea, Abnormal circulating creatine kinase concentration, Metatarsus valgus, Ano...	ORPHA:899
Jacobsen Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hall...	ORPHA:2308
Immune Thrombocytopenia	Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Hematuria, Thrombocytopenia, Cereb...	ORPHA:3002
Adrenocortical Carcinoma	Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur...	ORPHA:1501
Adams-Oliver Syndrome 2	Micrognathia, Absent distal phalanges, Developmental cataract, Microphthalmia, Visual impairment,...	OMIM:614219
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Failure to thrive, Bicuspid aortic valve, Duplication of phalanx of hallux...	OMIM:243310
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Abnormality of the spleen, Amelia, Anophthalmia, Renal hypoplasia/a...	ORPHA:2538
Multiple Endocrine Neoplasia Type 2	Elevated urinary vanillylmandelic acid, Elevated urinary catecholamine level, Parathyroid adenoma...	ORPHA:653
Craniotelencephalic Dysplasia	Craniosynostosis, Visual impairment, Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Serotonin Syndrome	Acute kidney injury, Mydriasis, Hepatic failure, Fever, Hypotension, Tremor, Tachypnea, Tachycard...	ORPHA:43116
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Elevated circulating creatinine concentration, Overlapping toe, Renal insuff...	OMIM:617478
Sotos Syndrome	Decreased fertility, Hip contracture, Ventricular septal defect, Talipes equinovarus, Pes planus,...	ORPHA:821
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence ...	OMIM:187900
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Osteomalacia, Renal insuffi...	OMIM:600740
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	OMIM:611126
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Short thumb, Overlapping toe, Micrognathia, Distally placed thumb, Agg...	OMIM:619148
Thrombocytopenia, Paris-Trousseau Type	Micrognathia, Clinodactyly, Radial deviation of finger, Thrombocytopenia	OMIM:188025
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Panc...	ORPHA:2072
Bloom Syndrome	Micrognathia, Abscess, Abnormal proportion of CD8-positive T cells, Telangiectasia, Acute myeloid...	ORPHA:125
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cataract, Elevated circulating hepatic transaminase concentration, Difficulty walking, Inability ...	OMIM:615356
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Leukemi...	OMIM:210900
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Sarcoidosis, Susceptibility To, 1	Fever, Pancytopenia, Pericardial effusion, Abnormality of T cell physiology, Splenomegaly, Bone c...	OMIM:181000
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Traboulsi Syndrome	Cataract, Homocystinuria, Ectopia lentis, Broad hallux, Phakodonesis, Short finger, Visual impair...	OMIM:601552
Acute Liver Failure	Pain insensitivity, Hypotension, Acute kidney injury, Elevated circulating hepatic transaminase c...	ORPHA:90062
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Weight loss, Syncope, Bradycardia, Jaw claudication, Dysesthesia	ORPHA:221098
Microphthalmia, Isolated 4	Postaxial polydactyly, Microphthalmia	OMIM:613094
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Fever, Elevated circulating creatinine concentration, Decreased g...	ORPHA:93126
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hypochromic anemia, Ocular albinism, Abnormal hip bone morpholog...	ORPHA:2720
Riddle Syndrome	Enuresis nocturna, Decreased circulating IgG level, Recurrent fever, Decreased circulating IgA le...	ORPHA:420741
Postinfectious Vasculitis	Abnormality of humoral immunity, Increased circulating antibody level, Hematuria, Increased circu...	ORPHA:48435
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Micrognathia, Eosinophilia, Im...	OMIM:617237
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met...	OMIM:268305
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Acute hepatic failure, Renal hyp...	ORPHA:2092
Vitreoretinochoroidopathy	Color vision defect, Microcornea, Dyschromatopsia, Pulverulent cataract, Blindness, Vitreous hemo...	OMIM:193220
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Micrognathia...	OMIM:618282
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Saul-Wilson Syndrome	Cataract, Short distal phalanx of finger, Hypoplasia of the odontoid process, Pseudoepiphyses of ...	OMIM:618150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Ectopia pupillae, Decreased response to growth hormone stimulation te...	OMIM:618223
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Ascites, Postural tremor, Splenomegaly, Cerebral visual ...	OMIM:301072
Tay-Sachs Disease	Precocious puberty, Increased serum beta-hexosaminidase, Laryngeal dystonia, Inability to walk, B...	ORPHA:845
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ectopia pupillae, Limb dystonia, Reduced visual acuity, Hypermetropia, Microphthalmia, Microcorne...	OMIM:175780
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Aplastic anemia, Absent thumb, Short thumb, Horseshoe kidney, Nephrobl...	OMIM:610832
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Failure to thrive in infancy, Abno...	OMIM:610758
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Microphthalmia, Anemia, Pelvic kidney	OMIM:617244
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Stiff-Person Syndrome	Fever, Hypertension, Opisthotonus, Exaggerated startle response, Anemia, Tachycardia, Diabetes me...	OMIM:184850
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Keratitis, Recurr...	ORPHA:331235
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Cataract, Microcornea, Small hand, Failure to thrive, 2...	OMIM:257850
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Abnormal libido, Pituitary adenoma, Increased circulating cortisol level,...	ORPHA:189427
Spinal Cord Injury	Urinary retention, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Hypercalce...	ORPHA:90058
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Osteoporosis, Eosinophilia	OMIM:620532
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Cerebral hemorrhage, Hepatosplenomegaly, Complete or near-comple...	OMIM:301081
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Fever, Recurrent fever...	OMIM:301074
Microphthalmia, Lenz Type	Self-injurious behavior, Cataract, Microcornea, Hypospadias, Hydroureter, Finger syndactyly, Camp...	ORPHA:568
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Oculodentodigital Dysplasia	Cataract, Microcornea, Hip dislocation, Clinodactyly, 3-4 toe syndactyly, Joint contracture of th...	OMIM:164200
Vexas Syndrome	Arteritis, Recurrent fever, Macrocytic anemia, Thrombocytopenia, Elevated circulating C-reactive ...	OMIM:301054
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Microcornea, Cataract, Hypogonadism, Telangiectasia, Keratoconju...	OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Hypoplastic cervical vertebrae, Lower limb asymmetry, Epiphyseal stippling...	ORPHA:35173
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ataxia, Cataract, Iris hypopigmentation, Abnormality of the urinary system, Abnormality of vision...	ORPHA:2719
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o...	ORPHA:2839
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Ventricular septal defect, Hydronephrosis, 2-3 toe syndactyly, Pulmonary a...	OMIM:616449
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Gm1 Gangliosidosis Type 1	Cardiomyopathy, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Broad long bone diaphyse...	ORPHA:79255
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pterygium, Pancytopenia, Palmopla...	OMIM:224230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Renal dysplasia, Preaxial polydactyly, Acetabular spurs...	OMIM:613091
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Aniridia, Obesity, Ventricular septal defect, Camptodactyly...	ORPHA:251038
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Abnormality of circulating ...	ORPHA:320
Usher Syndrome	Cataract, Visual impairment, High hypermetropia, Hypertrophic cardiomyopathy, Abnormal cardiovasc...	ORPHA:886
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Decreased circulating IgA level, Decreased proportion of class-switched memory B cells,...	OMIM:614878
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Leukocytos...	ORPHA:2307
Hydrolethalus Syndrome 1	Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Complete atrio...	OMIM:236680
Alström Syndrome	Chronic kidney disease, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsuline...	ORPHA:64
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular septal defect...	OMIM:146510
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Ric...	OMIM:612089
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Acute Intermittent Porphyria	Somatic sensory dysfunction, Urinary retention, Pseudobulbar paralysis, Fever, Dark urine, Increa...	ORPHA:79276
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Hashimoto th...	ORPHA:275
Joubert Syndrome	Episodic tachypnea, Apnea, Situs inversus totalis, Tremor, Hand polydactyly, Gait disturbance, At...	ORPHA:475
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Chronic decreased circulating IgG2, Decreased prop...	OMIM:615607
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses...	OMIM:208500
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horse...	OMIM:601186
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Cataract, Pterygium, Horseshoe kidney, Pancytopenia, Leukopenia, Phi...	OMIM:305000
Recurrent Respiratory Papillomatosis	Fever, Failure to thrive, Respiratory distress, Tachypnea, Syncope, Choking episodes, Dysphagia	ORPHA:60032
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Thrombocytopenia 3	Decreased mean platelet volume, Epistaxis, Thrombocytopenia	OMIM:273900
Zollinger-Ellison Syndrome	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:913
Joubert Syndrome 2	Nephronophthisis, Postaxial foot polydactyly, Failure to thrive, Abnormal foot morphology, Episod...	OMIM:608091
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocy...	ORPHA:79430
Alagille Syndrome 1	Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria...	OMIM:118450
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Ventricular septal de...	ORPHA:251014
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Warburg Micro Syndrome 4	Microcornea, Inability to walk, Developmental cataract, Microphthalmia, Micropenis, Visual impair...	OMIM:615663
Systemic Lupus Erythematosus	Fever, Chorea, Leukopenia, Hematuria, Proteinuria, Hypertension, Decreased circulating complement...	ORPHA:536
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Tufted Angioma	Anemia, Paresthesia, Thrombocytopenia	ORPHA:1063
Orofaciodigital Syndrome Type 6	Renal agenesis, Failure to thrive, Finger clinodactyly, Abnormal heart morphology, Preaxial polyd...	ORPHA:2754
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Failure to thrive, Respiratory distress, Tachypnea, Tubulointerstitial fibrosis	OMIM:263000
Werner Syndrome	Cataract, Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Reduced bo...	OMIM:277700
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Bresek Syndrome	Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Postaxial hand polydactyly, M...	ORPHA:85284
Meckel Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Micrognathia, Anophthalmia, Congenital ...	ORPHA:564
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Urinary retention, Dissociated sensory...	ORPHA:139417
Joubert Syndrome 37	Obesity, Postaxial polydactyly, Hydronephrosis, Micropenis, Microphthalmia, Hepatomegaly	OMIM:619185
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Hepatic steatosis, Ventricular septal defect, Pes planus, Elevat...	OMIM:619525
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Temperature instability, Hypopnea, Difficulty walking, Apnea, Astigmatism, Hypoventilation, Sinus...	OMIM:619482
Joubert Syndrome 14	Ventricular septal defect, Postaxial polydactyly, Renal cyst, Cerebral visual impairment, Ataxia,...	OMIM:614424
Agel Amyloidosis	Cataract, Cardiomyopathy, Stage 5 chronic kidney disease, Proteinuria, Orthostatic hypotension du...	ORPHA:85448
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Clinodactyly, Abnormality of the ureter, Micrognathia, Talipes, Bowin...	OMIM:249000
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Cerebrotendinous Xanthomatosis	Cataract, Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis,...	OMIM:213700
Hyper-Igd Syndrome	Lymphadenitis, Recurrent fever, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine me...	OMIM:260920
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Camptodactyly of finger, Micrognathia, Abnormality of the upper urinary tract, Micro...	ORPHA:2547
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Failure to thrive, Camptodactyly of finger, Talipes equinovarus, Tachypnea, Urinary incontinence,...	OMIM:604320
Pierson Syndrome	Cataract, Nephrotic syndrome, Hypoplasia of the iris, Hyperechogenic kidneys, Rieger anomaly, Uve...	OMIM:609049
Behçet Disease	Mitral regurgitation, Weight loss, Anorexia, Ataxia, Endocarditis, Aortic regurgitation, Cataract...	ORPHA:117
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Cataract, Obesity, Microphthalmia	ORPHA:363741
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Micrognathia, Mitral regurgitation, Bicuspid aortic valve, Tachypnea, Ataxia, Hypospadias, Dyspha...	OMIM:220111
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Small hand, Annular pancreas, Short thumb, Congenital hip dislocation, Hyp...	OMIM:268400
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Seckel Syndrome 2	Micrognathia, Clinodactyly of the 5th finger, Ectopic kidney, Microphthalmia, Heart murmur, Hypos...	OMIM:606744
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor...	OMIM:618752
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cataract, Obesity, Microphthalmia	OMIM:601794
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capillary fr...	ORPHA:96253
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Viss Syndrome	Increased circulating IgE level, Micrognathia, Genu valgum, High myopia, Mitral valve prolapse, V...	OMIM:619472
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Myhre Syndrome	Aortic valve stenosis, Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Ventricular septal ...	OMIM:139210
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Apnea, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Clinodac...	OMIM:618056
Lassa Fever	Menometrorrhagia, Oliguria, Fever, Shock, Jaundice, Conjunctivitis, Increased circulating IgM lev...	ORPHA:99824
Joubert Syndrome 30	Tachypnea, Apnea, Reduced visual acuity, Postaxial hand polydactyly	OMIM:617622
Kapur-Toriello Syndrome	Cataract, Abnormality of the urinary system, Short thumb, Camptodactyly of finger, Overlapping fi...	OMIM:244300
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Microphthalmia, Absent distal ...	OMIM:619339
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Failure to thrive, Ureteral stenosis, Patellar hypoplasia, Microgn...	ORPHA:2257
Interstitial Lung Disease 2	Clubbing of fingers, Pulmonary arterial hypertension, Cirrhosis, Increased circulating antibody l...	OMIM:178500
Bardet-Biedl Syndrome	Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Type II diab...	ORPHA:110
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cataract, Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes mellitus, Nephr...	OMIM:240300
Hartsfield Syndrome	Craniosynostosis, Aplasia/Hypoplasia of the radius, Split hand, Microphthalmia	ORPHA:2117
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Epiphyseal stippling...	OMIM:619135
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Reduced visual...	OMIM:269400
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Von Willebrand Disease, Type 3	Epistaxis, Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage, Menorrhagia	OMIM:277480
Stromme Syndrome	Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Preaxial pol...	OMIM:243605
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, 11 pairs of ribs, Visual loss, Anophthalmia, Ventricular septal defect, Microphtha...	ORPHA:77298
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Patellar hypoplasia, Hypogonadism, Talipes equinovalgus, Ulnar d...	ORPHA:3132
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Stomatocytosis, Hepatosplenomegaly, Brachydactyly, Zonula...	ORPHA:168577
Aicardi-Goutières Syndrome	Unexplained fevers, Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transamina...	ORPHA:51
Combined Oxidative Phosphorylation Deficiency 58	Difficulty walking, Gait ataxia, Visual loss, Hyperprolinemia, Reduced visual acuity, Hyperalanin...	OMIM:620451
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitar...	OMIM:603671
Microphthalmia, Syndromic 8	Microcornea, Split foot, Microphthalmia	OMIM:601349
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Congeni...	OMIM:605432
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopath...	OMIM:300952
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Short thumb, Microphthalmia	OMIM:609054
Intellectual Developmental Disorder, Autosomal Dominant 54	Urinary retention, Inability to walk, Bruxism, Apnea, Astigmatism, Aggressive behavior, Neutropen...	OMIM:617799
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Positive Romberg sign, Posterior cortical cataract, Reduced visual acuity, Ataxia...	ORPHA:67036
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals, Photophobia	OMIM:219750
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Broad-based gait, Multicystic kidney dysplasia, Hyphema, Ectopia pupillae,...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Broad-based gait, Multicystic kidney dysplasia, Long hallux, Genu valgum, ...	ORPHA:261537
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Wolfram Syndrome	Nephropathy, Male hypogonadism, Abnormality of the urinary system, Polydipsia, Gastrointestinal h...	ORPHA:3463
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, High myopia, Elevated circulating creatine kinase concentration, Microphthalmia, Buphth...	OMIM:616538
Legius Syndrome	Cataract, Acute monocytic leukemia, Male urethral meatus stenosis, Xanthelasma, Nephroblastoma, N...	ORPHA:137605
Urachal Cyst	Fever, Leukocytosis, Abscess, Hematuria, Peritonitis, Elevated circulating C-reactive protein con...	ORPHA:488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Myopia, Hypermetrop...	OMIM:613150
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney...	OMIM:115470
Quebec Platelet Disorder	Epistaxis, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epinephrine-induced platelet...	OMIM:601709
Hallermann-Streiff Syndrome	Cataract, Decreased number of sternal ossification centers, Small for gestational age, Slender lo...	OMIM:234100
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Neut...	ORPHA:88
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227990
Chronic Pneumonitis Of Infancy	Intercostal retractions, Fever, Failure to thrive, Respiratory distress, Tachypnea, Hyperventilat...	ORPHA:91359
Maternal Uniparental Disomy Of Chromosome 6	Slender long bone, Congenital adrenal hyperplasia, Progressive visual loss, Increased serum testo...	ORPHA:96181
Vici Syndrome	Decreased circulating IgG level, Cataract, Cardiomyopathy, Renal tubular acidosis, Decreased circ...	ORPHA:1493
Meckel Syndrome 14	Hepatic fibrosis, Postaxial foot polydactyly, Microretrognathia, Tricuspid regurgitation, Microgn...	OMIM:619879
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Reduced visual acuity, Hypermetropia, Corneal opacity, Sclerocornea, Flat cornea,...	OMIM:217300
Gaucher Disease, Type Ii	Failure to thrive, Apnea, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia	OMIM:230900
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Recurrent fever, Peritonitis, Increased circulating IgA ...	ORPHA:343
Garg-Mishra Progeroid Syndrome	Slender long bone, Slender metacarpals, Micrognathia, Microvesicular hepatic steatosis, Reduced v...	OMIM:620601
Letterer-Siwe Disease	Fever, Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Joubert Syndrome 22	Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly, Microphthalmia, Postaxial hand ...	OMIM:615665
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Inc...	OMIM:610489
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, High myopia, Mitral regurgitation, Ventricula...	OMIM:608328
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Failure to thrive, Horseshoe kidney, Vesicoureteral reflux, A...	ORPHA:2470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Peters anomaly, Megalocornea, Micrognathia, Blindness, Elevated circulating creatine ki...	OMIM:236670
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Cataract, Hypospadias, Peters anomaly, High myopia, Histiocytoid ...	OMIM:309801
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Mic...	ORPHA:3301
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227982
Microphthalmia With Linear Skin Defects Syndrome	Micrognathia, Mitral regurgitation, Mitral valve prolapse, Anophthalmia, Posterior embryotoxon, A...	ORPHA:2556
Cousin Syndrome	Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Micrognathia, Dislocation of the f...	OMIM:260660
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Right ventricular hypertrophy, Patent foramen ovale, Abnormal tricuspid ...	ORPHA:555874
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Clinodactyly, Sandal gap, Ectopia pupillae, 3-4 toe syndactyly, Broad hallux, Astigmati...	OMIM:618727
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Telangiectasia, Polyphagia, Abnormality of the kidn...	ORPHA:1606
Curry-Jones Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Foot polydactyly, Abno...	ORPHA:1553
Monosomy 18P	Generalized dystonia, Micrognathia, Hypothyroidism, Brachydactyly, Microphthalmia, Hypertension	ORPHA:1598
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Radial bowing, Megalocornea, Blindness, Fibular hypoplasia, Ulna...	OMIM:164900
Adrenomyeloneuropathy	Urinary incontinence, Urinary retention, Leg muscle stiffness, Urinary bladder sphincter dysfunct...	ORPHA:139399
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Photophobia, Corneal neovascularization, Telangiectasia, Keratoconjunctiviti...	OMIM:278730
Mowat-Wilson Syndrome	Aortic valve stenosis, Broad-based gait, Multicystic kidney dysplasia, Genu valgum, Axenfeld anom...	ORPHA:2152
Micro Syndrome	Cataract, Microcornea, Abnormal localization of kidney, Micrognathia, Hydronephrosis, Delayed pub...	ORPHA:2510
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Bowing of the long ...	ORPHA:90652
Facial Clefting, Oblique, 1	Talipes calcaneovalgus, Microphthalmia	OMIM:600251
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Tachypnea, Secund...	OMIM:620203
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Abnormality of vision, Blindness, Keratoconjunctivitis sicca, Microphthalm...	ORPHA:1806
17Q12 Microduplication Syndrome	Self-injurious behavior, Toe syndactyly, Finger syndactyly, Atrial septal defect, Microphthalmia	ORPHA:261272
Pneumocystosis	Abnormal neutrophil count, Weight loss, Fever, Increased circulating antibody level	ORPHA:723
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Graves disease, Urinary retention, Second degree atrioventricular block, Hy...	ORPHA:79102
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular...	OMIM:145981
Joubert Syndrome 23	Tachypnea, Apnea, Polydactyly	OMIM:616490
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Stevenson-Carey Syndrome	Central hypoventilation, Recurrent urinary tract infections, Microphthalmia, Atrial septal defect...	OMIM:611961
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ...	OMIM:610475
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, Talipes, Bicuspid aortic valve, Pes planus, Sutural c...	OMIM:612474
Craniotelencephalic Dysplasia	Craniosynostosis, Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Decreased body weight...	OMIM:300166
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Marden-Walker Syndrome	Renal hypoplasia, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar synostosis, Campt...	OMIM:248700
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatiti...	OMIM:145980
Townes-Brocks Syndrome	Toe syndactyly, Broad thumb, Pes planus, Atrial septal defect, Abnormality of the kidney, Microph...	ORPHA:857
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Fatal Familial Insomnia	Diplopia, Fever, Urinary retention, Apnea, Weight loss, Ataxia, Dysphagia	OMIM:600072
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Prominent fingertip pads, Joint contracture of the 5th finger, 2-3 toe syndactyly, Aggressive beh...	OMIM:620098
Hallermann-Streiff Syndrome	Small hand, Visual impairment, Abdominal situs inversus, Congestive heart failure, Micrognathia, ...	ORPHA:2108
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F...	ORPHA:56305
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Spondyloocular Syndrome	Cataract, Osteopenia, Posterior subcapsular cataract, Overlapping toe, Mitral valve prolapse, Dec...	OMIM:605822
Rodrigues Blindness	Microcornea, Blindness, Microphthalmia, Sclerocornea, Nasal flaring	OMIM:268320
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Blindness, Bilateral microphthalmos	ORPHA:77299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hemorrhage of the eye, Persistent pupillary membrane, Blindness, Macular h...	ORPHA:91495
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Thrombocytopenia	ORPHA:1237
Treacher-Collins Syndrome	Blepharospasm, Cataract, Failure to thrive, Micrognathia, Hypoplasia of the thymus, Abnormality o...	ORPHA:861
O'Sullivan-Mcleod Syndrome	Eosinophilia, Tremor, Increased circulating antibody level	ORPHA:99965
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma	ORPHA:1791
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Increased circulati...	ORPHA:373
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Anophthalmia, Microphthalmia	OMIM:164180
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t...	OMIM:256500
Papa Syndrome	Type I diabetes mellitus, Fever, Increased circulating antibody level, Proteinuria, Lymphadenopathy	ORPHA:69126
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Tachypnea, Single ventricle, Pedal edema, Systo...	ORPHA:2299
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali...	ORPHA:500095
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral regurgitation, Mitral valve prolapse, Exaggerated startle response	ORPHA:309155
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Peters anomaly, Micrognathia, Atrial septal defect, Brachydactyly, Microphthalmia	OMIM:614526
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Talipes, Reduced visual acuity, Pes planu...	ORPHA:508488
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Osteomalacia, Nephrolith...	ORPHA:405
Asparagine Synthetase Deficiency	Hypoasparaginemia, Failure to thrive, Long foot, Micrognathia, Blindness, Tremor, Cerebral visual...	OMIM:615574
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Trisomy 18	Cataract, Microcornea, Microretrognathia, Deviation of finger, Camptodactyly of finger, Abnormal ...	ORPHA:3380
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Microphthalmia, Hepatomegaly	OMIM:619053
Microphthalmia/Coloboma 9	Microcornea, Reduced visual acuity, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocor...	OMIM:615145
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Postaxial foot polydactyly, Clinodactyly, Episodic tachypnea, Self...	OMIM:213300
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Visual loss, Developmental cataract, Microphthalmia, S...	OMIM:302350
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ...	ORPHA:3455
Fryns Syndrome	Short distal phalanx of finger, Ectopic pancreatic tissue, Microretrognathia, Renal agenesis, Pol...	OMIM:229850
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hypotension, Microa...	ORPHA:244242
Warburg Micro Syndrome 2	Cataract, Microcornea, Overlapping toe, Clinodactyly of the 5th toe, Developmental cataract, Micr...	OMIM:614225
Recon Progeroid Syndrome	Long thumb, Arachnodactyly, Keratoconjunctivitis sicca, Thrombocytopenia, Anemia, Proximal placem...	OMIM:620370
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Failure to thrive, Broad hallux, Abnormal heart morphology, Decr...	OMIM:617062
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal ...	ORPHA:1352
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Increased circulating p...	OMIM:131100
Leukodystrophy, Hypomyelinating, 13	Visual impairment, Failure to thrive, Exaggerated startle response, Ataxia	OMIM:616881
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Fever, Increased circulating IgE level, Eosinophilia, Craniosynostosis	ORPHA:2314
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Respiratory distress, Decreased glomerular f...	OMIM:614748
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Kapur-Toriello Syndrome	Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Microphthalmia, Hypoplasia of ...	ORPHA:2328
Pelvis-Shoulder Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Short...	OMIM:169550
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia...	OMIM:119100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Iris coloboma, Clinodactyly, Broad hallux, Congenital hypothyroidism, Micrognathia, Patent forame...	OMIM:620186
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl...	OMIM:119800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Ataxia, Broad-based gait, Respiratory distress, Exaggerated startle response, Myopia, Dystonia	ORPHA:438216
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Cataract, Renal insufficiency, Hyperuricemia, Chronic he...	ORPHA:469
Porphyria, Acute Intermittent	Urinary retention, Paresthesia, Hypertension, Reduced erythrocyte porphobilinogen deaminase activ...	OMIM:176000
Fryns Syndrome	Short distal phalanx of finger, Multicystic kidney dysplasia, Tetralogy of Fallot, Micrognathia, ...	ORPHA:2059
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Hypoplast...	OMIM:614083
Proximal Renal Tubular Acidosis	Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Polydipsia, Glycosuria, Hypernatriur...	ORPHA:47159
Osteoporosis-Pseudoglioma Syndrome	Cataract, Osteopenia, Congenital blindness, Blindness, Tibial bowing, Iris atrophy, Ventricular s...	OMIM:259770
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Finger syndactyly, Camptodactyly of finger, Micrognathia, Microp...	ORPHA:284160
Fibrochondrogenesis 1	Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Megalocornea,...	OMIM:228520
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Anophthalmia, 2-3 toe sy...	OMIM:615877
Charge Syndrome	Abnormal tibia morphology, Anophthalmia, Talipes, Microphthalmia, Dysphagia, Iris coloboma, Tetra...	ORPHA:138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Adducted thumb, Mic...	OMIM:614643
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Patent foramen ovale, Tremor, Hydronephrosis, Atrial septal defect, Exaggerated startle...	OMIM:620327
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Heart And Brain Malformation Syndrome	Hand clenching, Camptodactyly of finger, Ventricular septal defect, Microphthalmia, Visual impair...	OMIM:616920
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Failure to thrive, Micrognathia, Apnea, Long fingers, Postaxial hand ...	ORPHA:521426
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea, Micrognathia, Dysphagia	ORPHA:163961
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abno...	OMIM:601399
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Ultra-low vision with retaine...	OMIM:612109
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Ventricular septal defect, Hydronephrosis, Subvalvular ao...	OMIM:613001
Meckel Syndrome, Type 4	Ventricular septal defect, Bowing of the long bones, Renal cyst, Atrial septal defect, Postaxial ...	OMIM:611134
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Inability to walk, Chorea, Exaggerated startle response, Optic nerve hypoplasia	OMIM:617864
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, 11 pairs of ribs, Microphthalmia, C...	OMIM:264480
Basal Cell Nevus Syndrome 1	Cataract, Short distal phalanx of the thumb, Plantar pits, Cardiac rhabdomyoma, Cardiac fibroma, ...	OMIM:109400
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Blindness,...	OMIM:617914
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Blindness, Aggressive beha...	OMIM:310600
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Decreased fertility, Ventricular septal defect, Keratoconjunctivitis sicca, Micropht...	OMIM:234050
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Curry-Jones Syndrome	Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot ...	OMIM:601707
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Situs inversus totalis, Decreased body weight	OMIM:614833
Kasabach-Merritt Phenomenon	Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Reticulocytosis, A...	ORPHA:2330
Otodental Syndrome	Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma	ORPHA:2791
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Abnormality of vision, Blindness, Visual loss, Anophthalmia, Amblyopia, Atrial septal d...	ORPHA:2526
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Blindness, Hematuria, Subarach...	ORPHA:853
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Ultra-low vision wit...	OMIM:221900
Oculogastrointestinal Neurodevelopmental Syndrome	Horseshoe kidney, Bicuspid aortic valve, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta...	OMIM:227270
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib...	ORPHA:2634
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,...	OMIM:164745
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Anemia, Decr...	OMIM:620040
Momo Syndrome	Bilateral microphthalmos, Long foot, Obesity, Femoral bowing, Large for gestational age, Blindnes...	ORPHA:2563
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Absent radius, M...	OMIM:263650
Progeroid Short Stature With Pigmented Nevi	Aortic valve stenosis, Cataract, Hypospadias, Impaired T cell function, Allergic conjunctivitis, ...	OMIM:176690
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Pyoderma Gangrenosum	Fever, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Failure to thrive, Congenital hypothyroidism, Micrognathia, Apnea, Postaxial polydactyly, Palmopl...	OMIM:617527
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Corneal opacity, Microphthalmia, Clin...	ORPHA:2399
Microphthalmia, Syndromic 3	Cataract, Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Ventricular septal defect, M...	OMIM:206900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Genu valgum, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Nyctalop...	OMIM:619321
Incontinentia Pigmenti	Cataract, Keratitis, Leukocytosis, Hypoplasia of the fovea, Eosinophilia, Microphthalmia, Retinal...	OMIM:308300
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Micrognathia, Ventricular septal defect, Abnormal metacarpal morphology, Atrial sep...	OMIM:268300
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Proteinuria, Amblyopia, Atrial septal defect, Microphthalmia, Heart...	ORPHA:2728
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Micrognathia, Camptodactyly, Micropenis, Microphthalmia, Sclerocornea, Short metacarpal...	OMIM:614230
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Type II...	OMIM:613406
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Microcornea, Female infertility, Amenorrhea, Hypermetropia, Microphthalmi...	OMIM:110100
Combined Oxidative Phosphorylation Deficiency 39	Dystonia, Type I diabetes mellitus, Ankle clonus, Sinus bradycardia	OMIM:618397
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Hypogonadism, Coronal craniosynostosis, Microphthalmia	ORPHA:228390
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Pedal edema, Ventricular septal defect	OMIM:126320
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Anophthalmia, Telangiectasia, Reduced visual acuity, Micro...	OMIM:305600
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Lower limb asymmetry, Congestive heart failure, Micrognathia, Microphthalmia, Hyposp...	ORPHA:2505
Monosomy 9Q22.3	Cataract, Plantar pits, Large for gestational age, Cardiac fibroma, Nephroblastoma, Polydactyly, ...	ORPHA:77301
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Hyporeflexia of lower limbs, Difficulty walking, Impaired vibration sensation in the lower limbs,...	ORPHA:320406
Teebi-Shaltout Syndrome	Aortic valve stenosis, Caudal appendage, Ureteral stenosis, Horseshoe kidney, Ventricular septal ...	OMIM:272950
Neuroocular Syndrome 1	Hypoplasia of the fovea, Pes planus, Hypermetropia, Microphthalmia, Lens coloboma, Brushfield spo...	OMIM:619539
Glycine Encephalopathy With Normal Serum Glycine	Genu recurvatum, Hand clenching, Overlapping toe, Apnea, Hip contracture, Talipes equinovarus, Ex...	OMIM:617301
Ohdo Syndrome, X-Linked	Clinodactyly, Short thumb, Overlapping toe, Micrognathia, Microphthalmia, Long thumb, Decreased b...	OMIM:300895
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Recurrent corneal erosions, Arrhyth...	OMIM:153400
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ...	ORPHA:958
Truncus Arteriosus	Aortic regurgitation, Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morph...	ORPHA:3384
Frontorhiny	Cataract, Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Brachydactyly, Microphth...	ORPHA:391474
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Exaggerated startle response, Dys...	ORPHA:309246
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Peters anomaly, Micrognathia, Vesicoureteral reflux, Patent foramen ovale, Vent...	OMIM:616975
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Cataract, Microphthalmia, Ataxia	OMIM:610651
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,...	ORPHA:1827
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Ventricular septal defect, Talipes equinovarus, Microphthalmia, 3-4 finger cutaneous ...	OMIM:612530
Spastic Tetraplegia And Axial Hypotonia, Progressive	Overlapping toe, Ankle clonus, Exaggerated startle response, Ataxia	OMIM:618598
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Grade III vesicoureteral reflux, Ventricular septal defect, Urethral stricture, Chordee, Atrial s...	OMIM:619522
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Bowing of the long bones, Renal cyst, Postaxial hand polydactyly, Mic...	OMIM:611561
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Congenital Primary Aphakia	Corneal perforation, Abnormality of vision, Aniridia, Congenital aphakia, Microphthalmia, Aplasia...	ORPHA:83461
Gm2-Gangliosidosis, Ab Variant	Chorea, Blindness, Exaggerated startle response, Dystonia, Aspiration	OMIM:272750
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Exaggerated startle response	OMIM:618201
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Hypogonadism, Blindness, Visual loss, Anophthalmia, Amblyopia, Microphthalmia, Hypoplas...	ORPHA:2250
Microphthalmia/Coloboma 12	Peters anomaly, Optic nerve aplasia, Vesicoureteral reflux, Reduced visual acuity, Corneal opacit...	OMIM:120200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Stiff Person Spectrum Disorder	Falls, Difficulty walking, Hypothyroidism, Exaggerated startle response, Diabetes mellitus	ORPHA:3198
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Micrognathia, Arachnodactyly, Bowing of the long bones, Pulmonary arteri...	OMIM:614437
Meckel Syndrome, Type 2	Polydactyly, Bowing of the long bones, Renal cyst, Postaxial hand polydactyly, Microphthalmia, Bi...	OMIM:603194
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea	OMIM:267450
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Primary adrena...	OMIM:269200
Steinfeld Syndrome	Unilateral renal dysplasia, Abnormal heart morphology, Absent gallbladder, Missing ribs, Aplasia/...	OMIM:184705
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Absent Achilles reflex, Pes cavus, Ankle clonus, Exaggerated startle response	OMIM:609541
Mycophenolate Mofetil Embryopathy	Micrognathia, Visual loss, Ventricular septal defect, Ectopic kidney, Microphthalmia, Foot polyda...	ORPHA:268249
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Cerebral visual impairment, Exaggerated startle response	OMIM:620114
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Absent gallbladder, Foot polydactyly, Renal hypoplasia/aplasia, Missing ribs...	ORPHA:3186
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Hydrolethalus	Micromelia, Micrognathia, Anophthalmia, Microphthalmia, Postaxial hand polydactyly	ORPHA:2189
Phace Syndrome	Cataract, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia i...	ORPHA:42775
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, ...	OMIM:607932
Renpenning Syndrome 1	Cataract, Renal hypoplasia, Synostosis of the proximal phalanx of the thumb with the 1st metacarp...	OMIM:309500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil...	ORPHA:183675
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Anophthalmia, Microphthalmia, Micropenis, Opt...	OMIM:610125
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Decreased response to growth hormone stimulation test, Decreased...	OMIM:615577
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting the 4th finger...	ORPHA:672
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Hyperekplexia 2	Myopia, Astigmatism, Exaggerated startle response	OMIM:614619
Kinsship Syndrome	Osteopenia, Renal hypoplasia, Failure to thrive, Horseshoe kidney, Bruxism, Micrognathia, Fibular...	OMIM:619297
Hyperekplexia 1	Apnea, Aspiration, Hip dislocation, Exaggerated startle response	OMIM:149400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Small hand, Congestive heart failure, Decreased response to growth hormone stimulation ...	ORPHA:444077
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Norrie Disease	Self-injurious behavior, Cataract, Ectopia lentis, Failure to thrive, Hypoplasia of the iris, Abn...	ORPHA:649
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Failure to thrive, Apnea, Tachypnea, Pulmonary arterial ...	OMIM:265120
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Failure to thrive, Unilateral microphthalmos, Mitral valve prolapse, Adducted thum...	OMIM:618874
Blue Rubber Bleb Nevus	Intestinal bleeding, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Renal agenesis, Rudimentary fibula, Aplasia of the bladder,...	OMIM:200980
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Craniofacial osteosclerosis, Failure to thrive, Sclerosis of skull ...	OMIM:300373
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Clinodactyly, Radial deviation of finger, Hypogonadism, Failure...	OMIM:163950
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Myopia, Ectopia pupillae	OMIM:156900
Fetal Alcohol Syndrome	Micrognathia, Atrial septal defect, Microphthalmia	ORPHA:1915
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Failure to thrive, Short finger, Micrognathia, Vent...	OMIM:608670
Hyperekplexia 3	Apnea, Syncope, Exaggerated startle response	OMIM:614618
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea, Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia	ORPHA:231736
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Failure to thrive, Brachydactyly, Corneal opacity, ...	ORPHA:364577
Fontaine Progeroid Syndrome	Coronal craniosynostosis, Short distal phalanx of finger, Failure to thrive, Abnormal heart morph...	OMIM:612289
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Hematuria, Neutropenia, Anorexia, Corneal erosion, Abnormal penis morp...	ORPHA:95455
Erythema Elevatum Diutinum	Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Campomelic Dysplasia	Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ...	ORPHA:140
Double Outlet Left Ventricle	Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri...	ORPHA:3427
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Micrognathia, Hypoplasia of the retina, Elevated circulating creatine kin...	OMIM:253280
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Micrognathia, Hypoplastic pelvis, Adrenal gland agenesis, Urethral atre...	OMIM:273395
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Micrognathia, Long fingers, Microphthalmia	OMIM:156610
Tay-Sachs Disease	Blindness, Aspiration, Exaggerated startle response	OMIM:272800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Unilateral renal agenesis, Ankle flexion contracture, Abnormal renal col...	ORPHA:468631
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Short foot, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Atrial septal defect, Hypermetropia, Bilateral renal dysplasi...	ORPHA:500150
Vacterl With Hydrocephalus	Microcornea, Absence of the sacrum, Renal agenesis, Micrognathia, Anophthalmia, Renal hypoplasia/...	ORPHA:3412
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Failure to thrive, Respiratory distress, Tachypnea, Pulm...	OMIM:610913
Joubert Syndrome 5	Nephronophthisis, Episodic tachypnea, Congenital blindness, Stage 5 chronic kidney disease, Renal...	OMIM:610188
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Surfactant Metabolism Dysfunction, Pulmonary, 3	Intraalveolar phospholipid accumulation, Failure to thrive, Respiratory distress, Apnea, Tachypne...	OMIM:610921
Neu-Laxova Syndrome 1	Cataract, Toe syndactyly, Renal agenesis, Finger syndactyly, Clinodactyly, Pterygium, Micromelia,...	OMIM:256520
Phace Association	Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Developmental cataract, Mi...	OMIM:606519
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Tachypnea, Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Right ventri...	ORPHA:217563
Surfactant Metabolism Dysfunction, Pulmonary, 4	Tachypnea, Intraalveolar phospholipid accumulation, Failure to thrive	OMIM:300770
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Cysticercosis	Diplopia, Somatic sensory dysfunction, Increased circulating antibody level, Abnormal myocardium ...	ORPHA:1560
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormal localization of kidney, Micrognathia, Renal hypoplasia/aplasia, Talipes, Adrenal hypopla...	ORPHA:2166
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Oculo-Palato-Cerebral Syndrome	Cataract, Small hand, Leukocoria, Microphthalmia, Short foot	ORPHA:2714
Tibial Hemimelia	Absent tibia	OMIM:275220
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Renal agenesis, Failure to thrive, Finger syndactyly, Preaxial h...	ORPHA:2753
Smooth Muscle Dysfunction Syndrome	Mydriasis, Tachypnea, Pulmonary arterial hypertension, Atrial septal defect, Hypertension	OMIM:613834
Proboscis Lateralis	Cataract, Microcornea, Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis,...	ORPHA:141099
Frontonasal Dysplasia 2	Craniosynostosis, Microphthalmia	OMIM:613451
Skin Creases, Congenital Symmetric Circumferential, 2	Microcornea, Ureterocele, Micrognathia, 2-3 toe syndactyly, Pes planus, Long fingers, Microphthal...	OMIM:616734
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Increased circulating an...	OMIM:114065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Fever, Short humerus, Cerebral visual impairment, Exaggerated startle response, Dysphagia, Short ...	OMIM:618367
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Iris atrophy, Microphthalmia, ...	OMIM:201180
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Bosma Arhinia Microphthalmia Syndrome	Cataract, Microphthalmia, Hypogonadotropic hypogonadism, Paranasal sinus hypoplasia, Primary amen...	OMIM:603457
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Tetralogy of Fallot, Ventricular s...	OMIM:100300
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Broad thumb, Camptodactyly of finger, Microphthalmia, Iris coloboma, Tapered finger	ORPHA:1236
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Fraser Syndrome 1	Renal hypoplasia, Bilateral microphthalmos, Aplasia/Hypoplasia of the sternum, Abnormal heart mor...	OMIM:219000
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Abnormality of vision, Iris coloboma, Microphthalmia	ORPHA:2612
Aicardi Syndrome	Precocious puberty, Cataract, Missing ribs, Hepatoblastoma, Microphthalmia, Proximal placement of...	OMIM:304050
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Micrognathia, Patent foramen ovale, Ventricular septal defect, Microphthalmia, M...	OMIM:613884
Monosomy 13Q14	Cataract, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Microp...	ORPHA:1587
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Branchiooculofacial Syndrome	Iris coloboma, Cataract, Renal agenesis, Short thumb, Preaxial hand polydactyly, Ectopic thymus t...	OMIM:113620
Aicardi Syndrome	Precocious puberty, Small hand, Missing ribs, Hepatoblastoma, Delayed puberty, Hip dysplasia, Mic...	ORPHA:50
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Finger clinodactyly, Camptodactyly of finger, Tetralogy of Fallot, Brachydactyly, Micro...	ORPHA:306542
Monosomy 9P	Abnormality of the tarsal bones, Micrognathia, Ureteropelvic junction obstruction, Postaxial hand...	ORPHA:261112
46,Xy Sex Reversal 5	Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating...	OMIM:613080
Microphthalmia, Syndromic 1	Hypospadias, Microcornea, Renal hypoplasia, Hydroureter, Clinodactyly, Prominent fingertip pads, ...	OMIM:309800
Mowat-Wilson Syndrome	Cataract, Microcornea, Hypospadias, Ectopia pupillae, Abnormal heart morphology, Ventricular sept...	OMIM:235730
Oculopalatocerebral Syndrome	Leukocoria, Microphthalmia	OMIM:257910
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Fraser Syndrome	Abnormality of the urinary system, Toe syndactyly, Finger syndactyly, Blindness, Wide pubic symph...	ORPHA:2052
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v...	ORPHA:3144
Holoprosencephaly 7	Panhypopituitarism, Iris coloboma, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Frontofacionasal Dysplasia	Cataract, Microcornea, Iris coloboma, Microphthalmia	OMIM:229400
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Micrognathia, Vesicoureteral r...	OMIM:164210
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Isolated Arrhinia	Respiratory distress, Microphthalmia	ORPHA:1134
Holoprosencephaly 2	Anterior pituitary agenesis, Adrenal hypoplasia, Single ventricle, Microphthalmia, Diabetes insip...	OMIM:157170
Treacher Collins Syndrome 1	Abnormal heart morphology, Micrognathia, Visual loss, Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 1	Single ventricle, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus	OMIM:236100

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 Zscan10

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 Zscan10.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Zscan10^{tm2a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Zscan10^{tm2a(EUCOMM)Wtsi}	PMC6459510
Agouti C57BL/6N embryonic stem cells for mouse genetic resources.	Nature methods (June 2009)	Zscan10^{tm1a(EUCOMM)Wtsi}	PMC3555078

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Zscan10^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Zscan10^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Zscan10^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Zscan10^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zscan10^{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: Zscan10 MGI:3040700

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Legacy Phenotype Associated Images

Human diseases caused by Zscan10 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data