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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
abnormal retina morphology		Zscan10^{tm2a(EUCOMM)Wtsi}	HET		Early adult	3.34×10^-05
preweaning lethality, incomplete penetrance		Zscan10^{tm2a(EUCOMM)Wtsi}	HOM		Early adult	0.00

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X-ray

XRay Images Whole Body Dorso Ventral

14 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 (1817 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/cone-rod dystrophy, Cone dystrophy	OMIM:300085
Retinitis Pigmentosa 67	Rod-cone dystrophy	OMIM:615565
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Retinitis Pigmentosa 24	Cone dystrophy, Rod-cone dystrophy	OMIM:300155
Retinitis Pigmentosa, Y-Linked	Rod-cone dystrophy	OMIM:400004
Retinitis Pigmentosa 55	Rod-cone dystrophy	OMIM:613575
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Choroidal Dystrophy, Central Areolar, 3	Drusen, Chorioretinal atrophy	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, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Immunodeficiency 27A	Fever, Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Anorexia, Splenom...	OMIM:209950
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Autoinflammation With Infantile Enterocolitis	Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemo...	OMIM:616050
Immunodeficiency 32B	Fever, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenome...	OMIM:226990
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Alpha-Heavy Chain Disease	Fever, Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, ...	ORPHA:100025
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Cataract, Reduced systolic function, Failure to thrive in infancy...	OMIM:618805
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac...	ORPHA:26793
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine...	ORPHA:172
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Myh9-Related Disease	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria...	ORPHA:182050
Immunodeficiency 95	Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin...	OMIM:619773
Cln3 Disease	Blindness, Cataract, Ataxia, Aggressive behavior, Amblyopia, Vacuolated lymphocytes, Increased ci...	ORPHA:228346
Combined Oxidative Phosphorylation Deficiency 34	Fever, Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic failure, Elevated circ...	OMIM:617872
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Pericardial effusion, Weight loss, Intestin...	ORPHA:90362
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Fever, Pancytopenia, Decreased circul...	OMIM:619924
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk...	ORPHA:268
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno...	ORPHA:1667
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception...	ORPHA:14
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Immunodeficiency 43	Decreased circulating IgG level, Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased s...	OMIM:241600
Drug-Induced Lupus Erythematosus	Fever, Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating crea...	ORPHA:231111
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal...	ORPHA:85443
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a...	ORPHA:93323
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Metaphyseal widening, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic s...	OMIM:617303
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, Lymphadenopa...	OMIM:603553
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
X-Linked Agammaglobulinemia	Fever, Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Thrombocytop...	ORPHA:47
Congenital Enterovirus Infection	Respiratory distress, Fever, Abnormal macrophage morphology, Hypothermia, Fetal ascites, Pericard...	ORPHA:292
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Abnormality of the kidney, Giant pl...	OMIM:155100
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ...	ORPHA:275555
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Tre...	ORPHA:94093
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Anorexia, Tachypnea, Leukopenia, 3-Methylglutaric aciduria, Lethargy, Hepatomegaly, Ketonu...	ORPHA:20
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Abnormally large globe, Renal salt wasting, Nephroc...	OMIM:241200
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn...	OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Apnea, E...	OMIM:619048
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, A...	ORPHA:175
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Proteasome-Associated Autoinflammatory Syndrome 2	Fever, Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased ...	OMIM:618048
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo...	OMIM:618982
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Tremor, Dysmetria, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia...	OMIM:212065
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Leukopenia, Hy...	ORPHA:99826
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Femur fracture, Blindness, Craniosyno...	OMIM:259700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Small for gestational age, Ext...	OMIM:617021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Dystonia, Anorexia, Thrombocytopenia, Sp...	ORPHA:79312
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Abnormality...	ORPHA:210110
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinine concentration, Ch...	OMIM:608104
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Cataract, Ventric...	ORPHA:36913
Coloboma Of Macula	Macular coloboma	OMIM:120300
Idiopathic Congenital Hypothyroidism	Hypothermia, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimu...	ORPHA:95717
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer...	OMIM:603278
Diffuse Alveolar Hemorrhage	Fever, Respiratory failure requiring assisted ventilation, Decreased circulating complement C4 co...	ORPHA:90060
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infecti...	ORPHA:98813
Syndromic Diarrhea	Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Hypocalcemia, Short tibia, Micropenis, Decreased circulating IgG level, Pat...	OMIM:607143
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho...	OMIM:603909
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase c...	OMIM:614727
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Severely reduced visual acuity, Hepatom...	OMIM:259720
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu...	ORPHA:90051
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Hypoalbuminemia, Abnormal bone ossification, Hypochole...	ORPHA:79324
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con...	OMIM:618775
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia...	OMIM:620085
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neut...	OMIM:169400
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Elevated circulating creatine kinase concentration, Tachypnea, I...	ORPHA:36234
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Abnormal ovarian physiology, Premature ...	ORPHA:90794
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hypothyroidism...	OMIM:619487
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Hypothermia, Cardiomegaly, Hypothyro...	OMIM:601005
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne...	ORPHA:398063
Malaria	Respiratory distress, Fever, Elevated circulating C-reactive protein concentration, Anemia, Gait ...	ORPHA:673
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Tremor, Impaired vibration sensation in the lower limbs, Developmental cata...	ORPHA:447753
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Leukopenia, Hypoalbuminemia, Conjunctivitis, Atrial septal defect, Decrease...	ORPHA:505248
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Blindness, Generalized osteosclerosis, Visual impairment, Genu val...	ORPHA:53
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp...	OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp...	OMIM:613101
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Hypothyroidism, Clubbing, Decreased circulating antibody level,...	OMIM:226300
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia, Respiratory insufficiency, Bradycardia, Dystonia, Left ventricular hypertrophy, Hype...	OMIM:614654
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Pedal edema, Ha...	OMIM:277900
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Distal sensory impairment, ...	OMIM:607250
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hypothyro...	OMIM:619013
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Hypoth...	ORPHA:159
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Hypothermia, Thyroid defect in oxidation and organification ...	ORPHA:95716
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Osteo...	OMIM:612462
Alg6-Cdg	Ataxia, Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Shorten...	ORPHA:79320
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitia...	ORPHA:37042
Slc35A2-Cdg	Osteopenia, Cerebral visual impairment, Elevated circulating thyroid-stimulating hormone concentr...	ORPHA:356961
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Cockayne Syndrome Type 1	Anophthalmia, Tremor, Photophobia, Conjunctivitis, Male hypogonadism, Hepatomegaly, Abnormality o...	ORPHA:90321
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Fever, Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, D...	ORPHA:169154
Relapsing Fever	Fever, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating ...	ORPHA:91547
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal...	OMIM:264700
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p...	OMIM:231200
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Lymphopeni...	ORPHA:276
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Necrotizing Enterocolitis	Hyponatremia, Shock, Apnea, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart ...	ORPHA:391673
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Mesangial hypercellularit...	OMIM:617575
Thrombotic Thrombocytopenic Purpura	Fever, Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Hematur...	ORPHA:54057
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypothermia, Dyspnea, Elevated urinary dopamine level, Ele...	ORPHA:230
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Mitochondrial Complex I Deficiency, Nuclear Type 13	Fever, Hepatomegaly, Generalized dystonia, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardi...	OMIM:618235
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Steatorrhea, Wei...	OMIM:212750
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Fever, Transient ischemic attack, Proteinuria, Myocardial ...	OMIM:274150
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Dysphagia, Hypertension, Bradykinesia, Impotence, Ga...	ORPHA:93256
Hemophagocytic Lymphohistiocytosis, Familial, 4	Fever, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenome...	OMIM:603552
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Rhizomelia, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Squ...	OMIM:611209
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level...	OMIM:619073
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Asthma, L...	ORPHA:2070
Rhabdoid Tumor	Fever, Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, L...	ORPHA:69077
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Impaired di...	OMIM:208920
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed epiphyseal ossification...	OMIM:600081
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Fever, Anemia of inadequate p...	ORPHA:86839
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Diffuse hepatic steato...	ORPHA:746
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Kn...	OMIM:608836
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Myopathy, Tubular Aggregate, 2	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Areflexia of lower...	OMIM:615883
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Ataxia, Thrombocytopenia, Respiratory insuf...	ORPHA:27
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Micropenis, Decreased skull ossification, Slender long bone, Ascites...	OMIM:602361
Boutonneuse Fever	Fever, Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Vasculitis, ...	ORPHA:83313
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Congestiv...	ORPHA:367
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Chorea, Hype...	ORPHA:289916
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Erl...	OMIM:610539
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Somatic sensory dysfunction, Tremor, Leukocytosis, Absent patel...	ORPHA:206594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Fever, Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolyti...	OMIM:235400
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Ob...	ORPHA:79445
Amoebiasis Due To Entamoeba Histolytica	Fever, Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morpholog...	ORPHA:67
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Cortical subperioste...	ORPHA:94089
Mu-Heavy Chain Disease	Fever, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, ...	ORPHA:100024
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti...	ORPHA:79282
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Splenomegaly, Cryptorchid...	OMIM:618440
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulating IgG level, Hyp...	ORPHA:2298
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Cranios...	ORPHA:251004
Propionic Acidemia	Hepatomegaly, Pancytopenia, Dystonia, Apnea, Increased level of hippuric acid in urine, Thrombocy...	OMIM:606054
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Elevated circulating aspartate aminotransferase concentration, Hyp...	OMIM:245400
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Bradycardia, Dysph...	OMIM:620265
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Elev...	OMIM:212138
Babesiosis	Fever, Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Anorexia, Cong...	ORPHA:108
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia	ORPHA:88643
Spontaneous Periodic Hypothermia	Ataxia, Hypothermia, Tremor, Gait disturbance, Arrhythmia, Abnormal pattern of respiration	ORPHA:29822
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Lymphocytic inters...	OMIM:618495
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I...	OMIM:300400
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul...	ORPHA:797
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron ...	ORPHA:358
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Rayna...	OMIM:615934
Sengers Syndrome	Osteopenia, Myopia, Premature ovarian insufficiency, Cataract, Cardiac arrest, Sudden cardiac dea...	OMIM:212350
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Osteopenia, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat...	OMIM:613327
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Hypothyroidism, Nephrotic syn...	OMIM:618347
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
Generalized Pustular Psoriasis	Hyponatremia, Fever, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-r...	ORPHA:247353
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Cachexia, Anorexia, Clubbing, Hematochezia, Hypokalemia, Clubbing of fingers, Paresthes...	OMIM:175500
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, ...	OMIM:614702
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Hypothermia, Large for gestational age, Delayed epiphyseal ossification, El...	ORPHA:226313
Hypophosphatasia, Infantile	Fever, Elevated urine pyrophosphate, Apnea, Elevated plasma pyrophosphate, Hypercalcemia, Cranios...	OMIM:241500
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Cataract, Bilobate gallbladder, Increased mean pla...	OMIM:607330
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbumin...	ORPHA:171
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Cardiomyopathy, Respir...	ORPHA:79327
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Short femur, Cardiomegaly, Cerebral visual impairm...	OMIM:620306
Lujo Hemorrhagic Fever	Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Nonproduct...	ORPHA:319213
Meningococcal Meningitis	Shock, Fever, Neonatal respiratory distress, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:33475
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym...	ORPHA:158057
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Br...	OMIM:616299
Beta-Thalassemia	Hepatomegaly, Abnormality of temperature regulation, Hypogonadotropic hypogonadism, Abnormal hemo...	ORPHA:848
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive seco...	OMIM:608971
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Fever, Pneumonia, Conjunctival hyperemia, Throm...	ORPHA:3392
Colchicine Poisoning	Hyponatremia, Respiratory distress, Renal insufficiency, Myocarditis, Congestive heart failure, L...	ORPHA:31824
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, S...	ORPHA:289157
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Liver Disease, Severe Congenital	Cardiomegaly, Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, ...	OMIM:619991
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr...	ORPHA:29073
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaire...	ORPHA:89938
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Myopia, Cataract, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, M...	OMIM:614376
Takenouchi-Kosaki Syndrome	Ataxia, Overlapping toe, Proximal placement of thumb, Tapered finger, Increased mean platelet vol...	OMIM:616737
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Recurrent pneumonia, Acute leukemia, Pol...	ORPHA:647
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	OMIM:214700
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,...	ORPHA:36238
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia	OMIM:615361
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe...	ORPHA:340
Genetic Recurrent Myoglobinuria	Fever, Elevated hepatic transaminase, Renal insufficiency, Dark urine, Recurrent myoglobinuria, E...	ORPHA:99845
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Griscelli Syndrome	Fever, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal...	ORPHA:381
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Cerebral visual impairment	OMIM:614652
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Bicuspid aortic valve, Tremor, Decreased circulating IgA level, Decreased circ...	OMIM:617744
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Chorea, Low plasma citrulline, Gait ataxia, Hyperventilation, Hepatomegaly, Ataxia, Dilate...	ORPHA:255210
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Abnormality of temperature regulation, Apnea, Abnormal pu...	ORPHA:667
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Crackles, Portal hypertension, Nodular regenerative hyperplasia of...	ORPHA:210136
Autosomal Recessive Spastic Paraplegia Type 9B	Postural tremor, Absent Achilles reflex, Pollakisuria, Tip-toe gait, Urinary retention, Spastic g...	ORPHA:447760
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Hypothermia, ...	ORPHA:90674
Secondary Intestinal Lymphangiectasia	Fever, Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulat...	ORPHA:90363
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Elevated circulating creatinine concentration, H...	OMIM:616733
Aapoaiv Amyloidosis	Paraproteinemia, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, Elev...	ORPHA:439232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia, Failure to thrive	ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypothermia, Respiratory insufficiency, Respiratory failure, 3-Met...	OMIM:618329
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium in...	ORPHA:572
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg...	OMIM:617514
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Corneal opacity, Large for gestational age, Respiratory insufficiency, Microcornea,...	ORPHA:2432
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hip contracture, Hypoventilation, Abnormality of temperature regulation, Myopia, Hypotherm...	OMIM:618493
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Nephrolithiasis, Genu valgu...	ORPHA:93160
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er...	ORPHA:447
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Fever, Hypertriglyceridemia, Decrease...	OMIM:619313
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Congenital h...	OMIM:244460
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee oste...	ORPHA:1304
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Cerebral visual impairment, Hypocalcem...	ORPHA:544482
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Visual loss, G...	ORPHA:329918
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph...	OMIM:235550
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Increased...	ORPHA:443811
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Caspase 8 Deficiency	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Failure to thrive, Sinusitis, Absence of lymph node germinal center, Recurrent pneum...	ORPHA:277
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of...	OMIM:208900
Systemic Lupus Erythematosus 17	Fever, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopenia, Mit...	OMIM:301080
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cataract, Ataxia, Elevated circulat...	OMIM:610377
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Hypothyroidism, Hyperthyroidism, Cryptorch...	ORPHA:488632
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o...	ORPHA:93324
Tetanus	Respiratory distress, Fever, Tachycardia, Elevated circulating creatine kinase concentration, Ele...	ORPHA:3299
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Apnea, Respiratory failure, Bradycardia, Dystonia, Hypertrophic cardio...	OMIM:616277
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
22Q11.2 Deletion Syndrome	Impaired T cell function, Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Atrial septal def...	ORPHA:567
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Congenital hip dislocation, Epiphyseal dysplasia, Cataract,...	OMIM:617913
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Inappropriate absence of fever, Increased circ...	OMIM:618944
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Dystonia, Ataxia, Elevated circulating creatine kinase concentration...	ORPHA:64753
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Micrognathia, Decre...	OMIM:241410
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Abnormal left ventricular function, Leukopeni...	OMIM:301056
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Interstitial Cystitis	Dyspareunia, Abnormality of the menstrual cycle, Abnormality of the urethra, Urinary bladder infl...	ORPHA:37202
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Jaundice, Anemi...	ORPHA:290
Cholera	Hyponatremia, Fever, Tachycardia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion c...	ORPHA:173
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Large vessel ...	ORPHA:49041
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Micrognathia...	OMIM:616730
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive...	ORPHA:1344
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Dyspha...	OMIM:616276
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Malignant hyperthermia, ...	ORPHA:466650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Bicuspid aortic valve, Apnea, Cerebral visual impairment, Abnormality of vision, Aspi...	ORPHA:438213
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Unsteady gait, ...	OMIM:254900
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chroni...	OMIM:251000
Idiopathic Steroid-Resistant Nephrotic Syndrome	Fever, Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary emb...	ORPHA:567548
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Fever, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eo...	ORPHA:331206
Primary Erythromelalgia	Leukemia, Vasculitis, Abnormality of thrombocytes, Hypothermia	ORPHA:90026
Juvenile Nephropathic Cystinosis	Abnormal long bone morphology, Photophobia, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, ...	ORPHA:411634
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,...	ORPHA:84090
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia	ORPHA:1980
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,...	OMIM:618183
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Atelis Syndrome 1	Cataract, Ventricular septal defect, Decreased lymphocyte proliferation in response to anti-CD3, ...	OMIM:620184
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Low-grade fever, Lethargy, Has...	ORPHA:199299
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Abnormally large globe, Splenomegaly, Post...	ORPHA:1655
Acute Interstitial Pneumonia	Fever, Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Non...	ORPHA:79126
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Choreoathetosis, Hepatic steatosis, Patent foramen ovale, Hepatomega...	ORPHA:17
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemi...	ORPHA:89937
Stuve-Wiedemann Syndrome 1	Apnea, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short ...	OMIM:601559
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Micrognathia, Microcytic anemia, T lymphocytopenia, Decreased serum estradiol, Microp...	ORPHA:2959
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Developmental cataract, Mic...	OMIM:618815
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Apnea, Hypothermia, Dysplastic testes, Cryptorchidism, Testicular d...	OMIM:608800
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Hypothermia	OMIM:615026
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Po...	OMIM:235255
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Osteoporosis, Obesity, Short metatarsal, Pseudohypoparathy...	OMIM:103580
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Micrognathia, Renal hypoplasia/aplasia, Hypocalcemia, Micro...	ORPHA:1438
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys...	OMIM:613658
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Dyspnea, Splenomegaly, Tach...	OMIM:239200
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Renal insufficiency, Hypo...	ORPHA:31826
Igg4-Related Aortitis	Fever, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, A...	ORPHA:449400
Refsum Disease	Short metacarpal, Cataract, Ataxia, Renal insufficiency, Heart block, Abnormal foot morphology, S...	ORPHA:773
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Cryptorchidism, Tachypnea, Methylmalonic...	OMIM:614857
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Respirat...	ORPHA:436
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:606407
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact...	OMIM:233270
Car T Cell Therapy-Associated Cytokine Release Syndrome	Fever, Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentrat...	ORPHA:542323
Gaucher Disease Type 1	Osteopenia, Anorexia, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatomegaly, Increased...	ORPHA:77259
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Intracranial hemorrhage, Hypocalcemia, Atrial septal def...	ORPHA:163979
Autosomal Recessive Spastic Paraplegia Type 35	Generalized dystonia, Urinary incontinence, Positional foot deformity, Dysmetria, Enuresis noctur...	ORPHA:171629
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Abnormal respiratory system physiology, Telangiectas...	ORPHA:101028
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Bronchiectasis, Sta...	OMIM:619468
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Hypothermia, Goiter, Delayed proxi...	ORPHA:90673
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Tachypnea, Double ...	ORPHA:3426
Pseudo-Torch Syndrome 3	Apnea, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentrati...	OMIM:618886
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Hypercalcemia, Developmental cataract, Nephrocalcinosis, Short 5th finger,...	ORPHA:557003
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr...	OMIM:617397
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Premature ovarian insufficiency, Cataract, Diabetes mellitus, Abnormality of the thyroid gland, S...	OMIM:609286
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Pericardial effusio...	ORPHA:2136
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Micrognathia, Thr...	ORPHA:2785
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated hepatic transaminase, Myopia, Decreased circulating ceruloplasmin concentra...	OMIM:242150
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap...	ORPHA:91139
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Keratoconjunctivi...	ORPHA:79242
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Pes planus, Elevated circulating creatine kinase concentration, Ab...	ORPHA:88618
2Q24 Microdeletion Syndrome	Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Long...	ORPHA:1617
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Osteoporosis, Thrombocytopenia, Decreased body weight	OMIM:613606
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, Short palm, Hypoplastic iliac wing,...	OMIM:235510
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Con...	ORPHA:49827
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Asthma, Recurrent pneumonia, Increase...	OMIM:243700
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Fever, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone l...	ORPHA:556037
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Neonatal respiratory distress, Congenital nephrotic syndrome, Small ...	OMIM:256300
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Patchy osteosclerosis, Micrognathia, Cr...	ORPHA:2323
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Fever, Conjunctival icterus, Abnormal conjunctiva morphology, Hy...	ORPHA:529808
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Fever, Conjunctival icterus, Abnormal conjunctiva morphology, Hy...	ORPHA:529799
Classic Galactosemia	Reduced bone mineral density, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insuffi...	ORPHA:79239
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Pediatric-Onset Graves Disease	Tremor, Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentration, Hepatomegaly,...	ORPHA:525731
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Menkes Disease	Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Hypothermia, Metaphyseal wi...	OMIM:309400
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Abnormal blood ion concentration, Renal cyst, Aplasia/H...	ORPHA:79404
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:79319
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Hypothermia, Cerebral visual impairment, Micrognathia, Bradycardia	OMIM:614498
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Small for gestational age, Hypergonadotropic hypog...	ORPHA:79237
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating para...	OMIM:603233
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th...	ORPHA:3319
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Visual loss, Corneal erosion, Dilated cardiomyopathy, Dy...	ORPHA:89842
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Atrial septal defect, Decreased ...	OMIM:620005
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recu...	OMIM:619824
Myopathy, Myofibrillar, 1	Hyporeflexia of lower limbs, Respiratory insufficiency due to muscle weakness, Dilated cardiomyop...	OMIM:601419
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Cataract, Ataxia, Talipes, Abnormal limb bone morphology, Epiphyseal ...	ORPHA:251009
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
3-Methylglutaconic Aciduria Type 4	Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Failure to thriv...	ORPHA:67048
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyse...	OMIM:618476
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C...	OMIM:602579
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Tachypnea, Reduced left ventricular e...	OMIM:616501
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentra...	ORPHA:2238
Digeorge Syndrome	Impaired T cell function, Sclerocornea, Micrognathia, Parathyroid hypoplasia, Abnormal thymus mor...	OMIM:188400
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Aspiration pneumonia, Intention tremor, ...	ORPHA:99027
Developmental And Epileptic Encephalopathy 78	Inability to walk, Chorea, Hypothermia, Cerebral visual impairment	OMIM:618557
Deafness-Lymphedema-Leukemia Syndrome	Fever, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Visual loss, Weight l...	ORPHA:3226
Immunodeficiency 23	Hemolytic anemia, Somatic sensory dysfunction, Lymphopenia, Ataxia, Allergic rhinitis, Abscess, E...	OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sinusitis, Hypertriglyceridemia, ...	OMIM:617591
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ...	OMIM:146200
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Paresthesia, Hypo...	ORPHA:94090
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Partially duplicated kidney, Hemat...	ORPHA:274
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci...	OMIM:614576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Failure to th...	OMIM:601457
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro...	ORPHA:2123
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Ataxia, Situs inversus totali...	OMIM:249270
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Ventricular se...	OMIM:620210
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia	OMIM:189800
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Cataract, Ataxia, Proteinuria, Congestive heart failure, Hyp...	ORPHA:225
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Mitral valve prolapse, Hypocalcemia, Nephropat...	ORPHA:1563
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia, Respiratory insufficiency	ORPHA:1954
Beta-Ketothiolase Deficiency	Fever, Hepatomegaly, Ketonuria, Ataxia, Anorexia, Leukocytosis, Tachypnea, Hyperammonemia, Weight...	ORPHA:134
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
Congenital Heart Block	Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he...	ORPHA:60041
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Hypothermia, 2-ethylhydracylic aciduria	OMIM:610006
Lymphoproliferative Syndrome, X-Linked, 2	Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased...	OMIM:300635
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Photophobia, Neutropenia, Abnormal natural killer cell morphology...	ORPHA:167
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp...	ORPHA:352540
Multifocal Atrial Tachycardia	Effort-induced polymorphic ventricular tachycardia, Tachypnea, Abnormal left ventricular function...	ORPHA:3282
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnorma...	OMIM:615838
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Dystonia, Loss of ambulation, Thrombocytopenia	OMIM:615010
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Diabetes mellitus, Increased circulating ferritin concentration, Elevated...	OMIM:606069
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Nodular regenerative hype...	ORPHA:247691
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Noonan Syndrome 12	11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st...	OMIM:618624
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Ataxia, Camptodactyly of finger, Hypogonadotropic hypogonadism, Micrognathia, Osteoporo...	ORPHA:48431
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Tapered finger, Long fingers, Atrioventricular block, Bradycardia, Joint contracture of...	OMIM:614407
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Myopia, Elevated circulating creatine kinase concentration, Inability to walk, Developmental cata...	OMIM:613155
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c...	ORPHA:99829
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial...	ORPHA:330015
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Small for gestational age, Ataxia, Dy...	OMIM:251300
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Increased circula...	ORPHA:228123
Autosomal Dominant Hypocalcemia	Writer's cramp, Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Fatigable...	ORPHA:428
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Xeroderma Pigmentosum, Complementation Group G	Cataract, Small for gestational age, Ataxia, Tremor, Microphthalmia, Pes cavus	OMIM:278780
Glutamine Deficiency, Congenital	Hypoglutaminemia, Neonatal respiratory distress, Apnea, Micromelia, Hyperammonemia, Bradycardia, ...	OMIM:610015
Chylomicron Retention Disease	Impaired vibratory sensation, Failure to thrive, Decreased LDL cholesterol concentration, Steator...	OMIM:246700
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Conjunctivitis, Decreased circulating IgG level, Hypothyroidism, Aut...	OMIM:614700
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi...	ORPHA:186
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Hepatomegaly, Increase...	ORPHA:355
Hereditary Sensory And Autonomic Neuropathy Type 4	Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration pneumonia,...	ORPHA:642
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Hepatomegaly...	OMIM:218330
Alexander Disease	Osteopenia, Diabetes mellitus, Ataxia, Sudden cardiac death, Hypothermia, Tremor, Precocious pube...	ORPHA:58
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Hemophagocytic Syndrome Associated With An Infection	Fever, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Elevated hepatic transaminase, I...	ORPHA:158048
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Stage 3 chronic kidney disease, Hyperparathyroidism, Cortical scl...	OMIM:620366
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Intermittent hypothermia, Reduced circulating prola...	OMIM:223360
Overlap Myositis	Elevated hepatic transaminase, Subluxation of the small joints of the hand, Diabetes mellitus, El...	ORPHA:206572
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesi...	OMIM:616267
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556030
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Blindness, Premature ovarian insufficiency, Renal insufficiency, P...	OMIM:610965
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen...	OMIM:618986
Tick-Borne Encephalitis	Elevated hepatic transaminase, Somatic sensory dysfunction, Elevated circulating C-reactive prote...	ORPHA:297
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Blindness, Cataract, Ataxia, Dilated cardiomyopathy, Renal hy...	ORPHA:254913
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder, Patent...	OMIM:617182
Encephalitis Lethargica	Fever, Urinary incontinence, Tremor, Diplopia, Photophobia, Increased circulating antibody level,...	ORPHA:83600
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Nep...	OMIM:301000
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Neutropenia, Failure to th...	OMIM:229050
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Senior-Loken Syndrome	Premature ovarian insufficiency, Ataxia, Cataract, Congenital hepatic fibrosis, Chronic kidney di...	ORPHA:3156
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Fever, Epistaxis, Cerebral hemorrhage, Cardiorespirato...	ORPHA:99828
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sensation in the lower ...	OMIM:159550
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Cardiac arrest, Hypothermia, Cryptorchidism, Arrhythmia, Abnormal pattern of...	ORPHA:168593
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio...	OMIM:618459
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Tricuspid regurgitation, Talipes, Micrognathia, Achilles tendon c...	OMIM:620351
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Idiopathic Chronic Eosinophilic Pneumonia	Fever, Elevated circulating C-reactive protein concentration, Crackles, Dyspnea, Nonproductive co...	ORPHA:2902
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden c...	OMIM:201475
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Chronic noninfectious lymphadenopathy, Pancre...	ORPHA:97289
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Reduced visual acuity, Visual impairment	OMIM:616335
Mirage Syndrome	Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Hypo...	OMIM:617053
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Rhizomelia, Thrombocytopenia	OMIM:166990
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirub...	OMIM:619534
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Micrognathia, Respiratory insufficiency due to muscle weakness, Dilated c...	ORPHA:171442
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc...	ORPHA:98850
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Recu...	OMIM:617718
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ...	ORPHA:83471
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Micrognathia, Unilateral radial aplasia, Tremor, Aplasia of the 1st metacar...	ORPHA:476126
Vici Syndrome	Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, T lymphocytopenia, ...	OMIM:242840
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Visual loss, Unilateral microphthalmos, Anemia, Osteopetrosis, Failur...	OMIM:615085
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Adams-Oliver Syndrome	Leukopenia, Finger syndactyly, Portal hypertension, Congenital hepatic fibrosis, Split hand, Abse...	ORPHA:974
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele...	ORPHA:487796
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Ataxia, Hydroureter, Diabetes mellitus, Megal...	OMIM:222300
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Fever, Decreased circulating IgG level, Pneumonia, Eosinophilia, Anorexia, Recurrent pneumonia, H...	ORPHA:169160
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T lymphocytopenia, B lymp...	OMIM:618108
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Schnitzler Syndrome	Fever, Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Lymp...	ORPHA:37748
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Waddling gait, Crumpled long bones, Corneal opacity, Moderately reduced visual acuity...	ORPHA:2788
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Abnormal...	ORPHA:905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, Opisthotonus, T lymphocytopenia, Narrow greater sciatic notch, Decreased circulatin...	ORPHA:508533
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De...	ORPHA:90793
Citrullinemia Type I	Torticollis, Ataxia, Scotoma, Tachypnea, Hyperammonemia, Ankle clonus, Hepatic failure, Elevated ...	ORPHA:247525
Ménétrier Disease	Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemi...	ORPHA:2494
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Craniosynostosis, Hypermetropia, Decreased circulating antibody level, Photophob...	ORPHA:79396
Chediak-Higashi Syndrome	Tremor, Photophobia, Leukopenia, Giant neutrophil granules, Neutropenia, Iris hypopigmentation, I...	OMIM:214500
Q Fever	Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho...	ORPHA:781
Lymphoproliferative Syndrome 3	Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Shwachman-Diamond Syndrome 1	Respiratory distress, Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaph...	OMIM:260400
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab...	ORPHA:160
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B...	ORPHA:400
Alveolar Echinococcosis	Liver abscess, Cholangitis, Pedal edema, Renal cyst, Cough, Ataxia, Abnormal pericardium morpholo...	ORPHA:284
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracrania...	ORPHA:449285
Isolated Agammaglobulinemia	Fever, Recurrent cutaneous abscess formation, Sinusitis, Pneumonia, Abnormality of neutrophils, A...	ORPHA:229717
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Respiratory distress, Elevated hepatic transaminase, 4-hydroxyphenylacetic acid...	OMIM:617156
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia...	OMIM:613179
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Micrognathia, Conjugated hyperbilirubinemia, Talipes calcaneovalgus, Nephro...	OMIM:208085
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic...	OMIM:618612
Neutropenia, Chronic Familial	Clubbing of fingers, Increased circulating antibody level, Clubbing, Neutropenia	OMIM:162700
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia	ORPHA:517
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Bronchiectasis, Decrea...	OMIM:619705
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Hypergonadotropic hypogonadism, Constriction of peripheral visual field, Tremor...	OMIM:614307
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc...	OMIM:610333
Acute Lung Injury	Respiratory distress, Shock, Acute pancreatitis, Fever, Increased circulating interleukin 6 conce...	ORPHA:178320
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Hyperi...	OMIM:170100
Stevens-Johnson Syndrome	Acute hepatic failure, Myocardial infarction, Abnormality of neutrophils, Abnormality of the uret...	ORPHA:36426
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal femur morphology, Cough, Pericardial effusion, Hepatosplenomegaly, ...	ORPHA:464329
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Congestive heart failure, Dysphagia, Short long b...	OMIM:619751
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
D-Glyceric Aciduria	Neonatal respiratory distress, Optic nerve hypoplasia, Tongue thrusting, Nonketotic hyperglycinem...	OMIM:220120
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat...	ORPHA:563
Cataract 11, Multiple Types	Blindness, Cataract, Chorea, Developmental cataract, Microphthalmia	OMIM:610623
Paroxysmal Extreme Pain Disorder	Impaired pain sensation, Tachycardia, Bradycardia, Rhinorrhea	OMIM:167400
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal...	ORPHA:86816
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly	OMIM:300484
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Short foot, Pollakisuria...	OMIM:227330
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Apnea, Intermittent hypothermia, Oculogyric crisis, To...	OMIM:608643
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Renal s...	ORPHA:85138
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Biliary tract abnormality, Obesity, Respiratory insufficiency, Membranous subvalvul...	ORPHA:3191
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Microscopic hematuria, Pulmonary embolism, Minimal change glomerulonephritis, Dyspnea, Hyperlipid...	ORPHA:567546
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Fever, Acute pancreatitis, Dyspnea, Hepatitis, Dysphagia, Melena, Le...	ORPHA:319218
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri...	ORPHA:94080
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Tachypnea, Respiratory insuff...	OMIM:614299
Galactosemia I	Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Myopia, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Respirator...	OMIM:613153
Fanconi Anemia, Complementation Group I	Myopia, Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone s...	OMIM:609053
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism...	ORPHA:3260
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Multiple muscular ventricular septal defects, Palmoplantar kerat...	OMIM:615508
Ataxia-Telangiectasia	Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Telangiectasia of the skin, ...	ORPHA:100
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Cataract, Ataxia, Rhizomelia, Dystonia, Micrognathia, Tremor, Congestive he...	OMIM:616271
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Abnormal lymphocyte proliferation, Atrial ...	OMIM:619573
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Anorexia, Renal s...	ORPHA:95409
Hemochromatosis, Type 1	Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Osteoporosis, Cardiomyopathy, Azoosper...	OMIM:235200
Genetic Steroid-Resistant Nephrotic Syndrome	Fever, Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, ...	ORPHA:656
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Felty Syndrome	Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Thrombocytopenia, Sple...	ORPHA:47612
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Respiratory distress, Pancytopenia, Hepatomegaly, Ketonuria, Elevated uri...	OMIM:251100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Apnea, Internally rotated shoulders, Fetal ascites, Micr...	OMIM:619503
Poems Syndrome	Sclerosis of hand bone, Polycythemia, Hypothyroidism, Sclerosis of foot bone, Pericardial effusio...	ORPHA:2905
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo...	OMIM:194350
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
High Altitude Pulmonary Edema	Fever, Orthopnea, Tachycardia, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, C...	ORPHA:330012
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan...	ORPHA:263501
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Ataxia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Cli...	OMIM:603585
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ...	ORPHA:2668
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se...	OMIM:618883
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo...	ORPHA:811
Atypical Rett Syndrome	Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Impaired pain sensation, Tremor,...	ORPHA:3095
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Primary Myelofibrosis	Fever, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, A...	ORPHA:824
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Decreased circulating fre...	ORPHA:276575
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria...	OMIM:214800
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn...	ORPHA:2239
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Cataract, Ataxia, Small for gestational age, Thrombo...	ORPHA:79325
Shigellosis	Anorexia, Abnormal blood ion concentration, Hypovolemic shock, Conjunctivitis, Hyponatremia, Absc...	ORPHA:810
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death...	ORPHA:99901
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Bilateral micropht...	ORPHA:93325
Refractory Anemia	Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate...	ORPHA:98826
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Hip dislocation, Stage 5 ...	OMIM:617729
Angiostrongyliasis	Fever, Increased circulating IgA level, Diplopia, Hypereosinophilia, Increased circulating specif...	ORPHA:74
Pierpont Syndrome	Decreased body weight, Cryptorchidism, Short toe, Short foot, Deep plantar creases, Microcornea, ...	OMIM:602342
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu...	OMIM:619510
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Increased bone mineral density, Abnormal heart valve mo...	ORPHA:77261
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De...	ORPHA:397596
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Respiratory distress, Pancytopenia, Hepatomegaly, Ketonuria, Thrombocytop...	OMIM:251110
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadis...	ORPHA:353298
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Acute Promyelocytic Leukemia	Fever, Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive c...	ORPHA:520
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Conotruncal defect, H...	ORPHA:2306
Fetal Parvovirus Syndrome	Abnormality of vision, Anemia, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia	ORPHA:295
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Mogs-Cdg	Respiratory distress, Hypoventilation, Hepatomegaly, Decreased circulating IgG level, Apnea, Inap...	ORPHA:79330
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst...	ORPHA:91500
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p...	OMIM:312863
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Micrognathia, Cerebral visual impairment, Renal cyst, Nephrocalcinosis, Atrial septal...	ORPHA:369837
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency, Common Variable, 7	Fever, Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, ...	OMIM:614699
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Igg4-Related Pachymeningitis	Somatic sensory dysfunction, Sinusitis, Eosinophilia, Elevated circulating C-reactive protein con...	ORPHA:449427
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency 22	Fever, Decreased circulating IgG level, Pericarditis, Abscess, Thrombocytopenia, Capillary leak, ...	OMIM:615758
Gray Platelet Syndrome	Abnormality of thrombocytes, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Thrombo...	ORPHA:721
Cataract 9, Multiple Types	Progressive cataract, Cataract, Amblyopia, Developmental cataract, Microcornea, Microphthalmia, I...	OMIM:604219
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent aspiration pneumonia, Intention tremor, Neonatal respiratory distress, Atax...	ORPHA:221139
Pediatric Systemic Lupus Erythematosus	Fever, Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Dyspnea, Raynaud pheno...	ORPHA:93552
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he...	ORPHA:398124
Infantile Refsum Disease	Hepatomegaly, Cataract, Ataxia, Constriction of peripheral visual field, Nyctalopia, Elevated cir...	ORPHA:772
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Syncop...	ORPHA:276580
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost...	OMIM:614732
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Hypercalcemia, Infantile, 1	Hypercalcemia, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Cofs Syndrome	Cataract, Camptodactyly of finger, Talipes, Micrognathia, Hypogonadism, Microphthalmia, Visual im...	ORPHA:1466
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Hypoth...	ORPHA:226316
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Cerebral visual impairment, Chronic kidney disease, Sta...	OMIM:615244
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Asthma, Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia, Recurre...	ORPHA:217390
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Immunodeficiency 46	Intermittent thrombocytopenia, Decreased circulating antibody level, Conjunctivitis, Neutropenia,...	OMIM:616740
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Mega...	OMIM:277380
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276556
3-Methylglutaconic Aciduria, Type Viii	Cataract, Apnea, Dystonia, Tremor, Jaundice, Dysphagia, Hypopnea, Respiratory failure, 3-Methylgl...	OMIM:617248
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath...	OMIM:203330
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Lymp...	ORPHA:98849
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Rift Valley Fever	Fever, Elevated hepatic transaminase, Scotoma, Anorexia, Hematemesis, Jaundice, Periodic fever, R...	ORPHA:319251
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of...	OMIM:120330
Congenital Fibrinogen Deficiency	Decreased testicular size, Fever, Tachycardia, Splenic rupture, Developmental cataract, Opisthoto...	ORPHA:335
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hepatocellular carcinoma, Lethargy, Hypothyroidism, Hepatomegaly, Hypogonadotropic ...	ORPHA:465508
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Aspergillosis	Sinusitis, Intracranial hemorrhage, Abnormal long bone morphology, Neutropenia, Cough, Abnormalit...	ORPHA:1163
Lymphangiectasia, Intestinal	Lymphopenia, Pedal edema, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal ...	OMIM:152800
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocyto...	ORPHA:77293
Immunodeficiency 92	Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory...	OMIM:619652
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Cataract, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal...	OMIM:616395
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,...	OMIM:616433
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopeni...	OMIM:606003
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Tachypnea, Prominent ...	ORPHA:466677
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Uraciluria, Microphthalmia, Failure to thrive, Lethargy	OMIM:274270
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Intracranial hemorrhage, Abnormality of the liver,...	ORPHA:464321
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter...	ORPHA:860
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Micrognathia, Microcornea, Talipes equinovarus, Microphthalmia, Visual impairment	OMIM:616171
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Maternal diabetes, Large for gestational ag...	ORPHA:324575
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Episodic tach...	OMIM:615160
Obesity Due To Congenital Leptin Deficiency	Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,...	ORPHA:66628
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Hypoxemia, Intracranial...	ORPHA:284227
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein...	ORPHA:60025
Velocardiofacial Syndrome	Hypoparathyroidism, Posterior embryotoxon, Ventricular septal defect, Talipes, Impaired T cell fu...	OMIM:192430
Warburg Micro Syndrome 1	Overlapping toe, Micrognathia, Cryptorchidism, Osteoporosis, Developmental cataract, Microcornea,...	OMIM:600118
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva...	ORPHA:90038
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg...	ORPHA:45452
Bleeding Disorder, Platelet-Type, 19	Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia	OMIM:616176
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,...	ORPHA:179494
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula...	ORPHA:137675
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b...	ORPHA:324
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Decreased circulating total IgM, Abnormal epiphysis morphology, Neutropenia, Decreased ...	ORPHA:2643
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Recurrent pneumoni...	OMIM:617475
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Moebius Syndrome	Respiratory distress, Micrognathia, Lower limb undergrowth, Micropenis, Short phalanx of finger, ...	OMIM:157900
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract, Hypogonadism	ORPHA:2528
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Pmm2-Cdg	Respiratory distress, Osteopenia, Elevated circulating thyroid-stimulating hormone concentration,...	ORPHA:79318
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ...	ORPHA:64744
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia, Bone marrow hypocellula...	OMIM:619151
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy...	OMIM:616414
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c...	OMIM:617241
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abnormal heart morphology, Hematochezia...	ORPHA:79076
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Cerebral visual impairment, Tremor, Gait atax...	ORPHA:254892
Zika Virus Disease	Fever, Optic disc hypoplasia, Ankle swelling, Increased circulating IgM level, Conjunctivitis, Le...	ORPHA:448237
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Blindness, Cataract, Nyctalopia, Reduced visual acuity, Photophobia, H...	OMIM:204000
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle...	OMIM:615297
Immunodeficiency, Common Variable, 11	Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory...	OMIM:615767
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis, Abnormal...	ORPHA:333
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ...	OMIM:150550
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Sandal gap, Urinary incontinence, Small hand, Pineal cys...	OMIM:618885
Biotinidase Deficiency	Hepatomegaly, Ataxia, Apnea, Splenomegaly, Visual loss, Tachypnea, Hyperammonemia, Organic acidur...	OMIM:253260
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoac...	OMIM:612736
Lig4 Syndrome	Pancytopenia, Plantar warts, Small for gestational age, Cryptorchidism, Asthma, Hypothyroidism, T...	OMIM:606593
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Elevated hepatic transaminase, Cataract, Renal insufficiency, Sp...	OMIM:251290
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Craniofacioskeletal Syndrome	Pes planus, Absent gallbladder, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchid...	OMIM:300712
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage...	OMIM:613496
Toxic Epidermal Necrolysis	Respiratory distress, Acute hepatic failure, Abnormality of the urethra, Photophobia, Conjunctivi...	ORPHA:537
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, P...	OMIM:615846
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Waddling gait, Hyperphosphaturia, Hypercal...	OMIM:156400
Mmep Syndrome	Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia, Visua...	ORPHA:3434
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Cataract, Rhizomelia, Ventricular septal defect, Proximal placement of ...	ORPHA:93267
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Fever, Hyperpyrexia, Neonatal respiratory distress, Tachycardia, Ventricular septal defect, Apnea...	OMIM:614653
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Developmental cataract, Decreased testicular size, Thrombocytopenia, Adduct...	OMIM:601815
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Cataract, Elevated circulating creatine kinase concentration, Congestive heart fai...	ORPHA:52430
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of vision, Leu...	ORPHA:84
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia...	ORPHA:906
Cerebrooculofacioskeletal Syndrome 1	Cataract, Small for gestational age, Rocker bottom foot, Micrognathia, Coxa valga, Cryptorchidism...	OMIM:214150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large for gestational age, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Atrial septal def...	ORPHA:96334
Pierpont Syndrome	Pes planus, Small for gestational age, Cryptorchidism, Short toe, Abnormality of the plantar skin...	ORPHA:487825
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextrocardia, Micrognathia, Secundum atr...	ORPHA:2257
Sodium-Dependent Multivitamin Transporter Deficiency	Clubbing of fingers, Decreased circulating IgG level	OMIM:618973
Illum Syndrome	Calcinosis, Temperature instability, Apnea, Bradycardia	OMIM:208155
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Caffey Disease	Fever, Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickenin...	ORPHA:1310
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Diabetes mellitus, ...	ORPHA:169105
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Aregenerative Anemia	Fever, Pancytopenia, Fatigable weakness of skeletal muscles, Dyspnea, Erythroid hypoplasia, Retic...	ORPHA:101096
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Dyspnea, Dilatation of the ventricular cavity, Hyperpepsino...	OMIM:615745
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Peroxisome Biogenesis Disorder 8B	Cataract, Ataxia, Dysesthesia, Unsteady gait, Elevated circulating phytanic acid concentration, L...	OMIM:614877
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femo...	OMIM:613990
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Thro...	OMIM:603467
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Thyroid agenesis, Elevated circulating th...	OMIM:218700
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,...	ORPHA:70587
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi...	OMIM:616300
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Vipoma	Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neopla...	ORPHA:97282
Bone Marrow Failure Syndrome 4	Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity...	OMIM:618116
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo...	OMIM:612301
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Aggressive behavior, Amblyopia, Tremor, Dysmetria, Cardiomyopathy...	OMIM:617710
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Large central visual field defect, Apnea, Episodic tachypnea, Blindness, Visual loss...	ORPHA:79264
Immunodeficiency 70	Plantar warts, Decreased circulating antibody level, Decreased circulating total IgA, Decreased c...	OMIM:618969
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,...	OMIM:610978
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Autoi...	ORPHA:391487
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Immunodeficiency 60 And Autoimmunity	Fever, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circulating total IgM, Decreased cir...	OMIM:618394
Refsum Disease, Classic	Somatic sensory dysfunction, Short fourth metatarsal, Ataxia, Cataract, Cardiomegaly, Congestive ...	OMIM:266500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM ...	OMIM:242860
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Myopia, Decreased circulating antibody level, Clinodactyly of the 5th finger, Lymphopenia, Hypopr...	ORPHA:1116
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal...	OMIM:277440
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Micrognathia, Abnormal pupil morphology, Oligosacchariduria, ...	ORPHA:534
Erdheim-Chester Disease	Cough, Increased bone mineral density, Ataxia, Abnormal pericardium morphology, Hypogonadotropic ...	ORPHA:35687
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min...	OMIM:617052
Hereditary Coproporphyria	Hyponatremia, Fever, Tachycardia, Dark urine, Abnormal circulating porphyrin concentration, Respi...	ORPHA:79273
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nonprogressive cerebellar ataxia, Nephritis, Thrombocytopenia	ORPHA:3327
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum...	OMIM:619750
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly...	OMIM:242700
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndr...	OMIM:557000
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Hypoplastic a...	OMIM:620076
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Menorrhagia, Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Catastrophic Antiphospholipid Syndrome	Amaurosis fugax, Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmona...	ORPHA:464343
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Adrenal pheochromocytoma, Positive regitine blocking test, Extraadrenal pheochromocytoma,...	ORPHA:29072
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Blindness, Thrombocytopenia, Cranial hyperostosis, Di...	OMIM:259710
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Crackles, Myocardial ...	ORPHA:97292
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Apnea, Micrognathia, Metatarsus adductus...	OMIM:214110
Pudendal Neuralgia	Dyspareunia, Somatic sensory dysfunction, Dysuria, Pollakisuria, Impotence, Paresthesia	ORPHA:60039
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Micromelia, Micro...	OMIM:255800
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Adrenocorticotropic hormo...	OMIM:609981
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Cataract, Ataxia, Small for gestational age, Dystonia, Hypospadias...	OMIM:615471
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Low...	ORPHA:50918
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral m...	OMIM:613320
Goodpasture Syndrome	Fever, Renal insufficiency, Proteinuria, Glomerulonephritis, Crackles, Cylindruria, Macroscopic h...	OMIM:233450
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso...	ORPHA:73224
Martsolf Syndrome 1	Micrognathia, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Short phal...	OMIM:212720
Rere-Related Neurodevelopmental Syndrome	Myopia, Ventricular septal defect, Hypospadias, Micrognathia, Peters anomaly, Cryptorchidism, Cer...	ORPHA:494344
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Hy...	OMIM:230800
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Atelis Syndrome 2	Pes planus, Micrognathia, Dyspnea, Thrombocytopenia, Elevated circulating thyroid-stimulating hor...	OMIM:620185
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Increased circulating IgE level, H...	OMIM:304790
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Immunodeficiency 20	Wheezing, Reduced natural killer cell count, Recurrent sinusitis, Reduced natural killer cell act...	OMIM:615707
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphati...	OMIM:616005
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Hypospadias, Opisthotonus, Bradycardia, Pulmonary arterial hypertension, Fa...	OMIM:619272
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Le...	OMIM:243500
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Cerebral visual im...	OMIM:619055
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia, Coxa valga	OMIM:191420
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Myopia, Increased bone mineral density, Cataract, Micrognathia, Coxa valga, Flat acetabular roof,...	ORPHA:163649
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ...	OMIM:616576
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Aspiration, Fai...	OMIM:610768
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Asthma, Recurrent pneumonia, Increased circulating IgE level, Br...	OMIM:619752
Recurrent Respiratory Papillomatosis	Respiratory distress, Fever, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obst...	ORPHA:60032
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Pneumocystosis	Fever, Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproducti...	ORPHA:723
Platelet Signal Processing Defect	Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat...	OMIM:173590
Dyskeratosis Congenita, Autosomal Dominant 1	Ataxia, Aplastic anemia, Dyspnea, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, I...	OMIM:127550
Gamma-Heavy Chain Disease	Fever, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thro...	ORPHA:100026
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Abnormal repetitive mannerisms, Nail-biting, Pain insensitivity, Hair-pulling, Opti...	OMIM:620330
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Craniosynostosis, Keratitis, Increased circulating IgE level, Clubbing, Bronchiecta...	OMIM:618523
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Chorea, Lymphopenia, Recurrent fever	OMIM:616744
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Rocker bottom foot, Dysphagia, Atrial septal defect, Hyp...	ORPHA:89844
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Microphthalmia, Isolated 5	Cataract, Nyctalopia, High hypermetropia, Reduced visual acuity, Photophobia, Microphthalmia	OMIM:611040
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot, Micrognathia	OMIM:616570
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Cataract, Chorea, Right ventricular d...	ORPHA:369840
Monosomy 13Q34	Pes planus, Metrorrhagia, Epistaxis, Hypercalcemia, Micrognathia, Postaxial hand polydactyly, Fet...	ORPHA:96168
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Anemia, Osteopetrosi...	OMIM:611490
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A...	OMIM:300310
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Axial malrotation of the kidney, Clinodactyly of the 5th finger, Phocomelia, Genu v...	ORPHA:3320
Fanconi Anemia, Complementation Group A	Ectopic kidney, Reticulocytopenia, Neutropenia, Male infertility, Short thumb, Cryptorchidism, An...	OMIM:227650
Thrombocytopenia 1	Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate...	OMIM:313900
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia	OMIM:193670
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Myopia, Blindness, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concent...	OMIM:615181
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ...	ORPHA:3240
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr...	ORPHA:276621
Foveal Hypoplasia 2	Hypoplasia of the fovea, Reduced visual acuity, Astigmatism, Axenfeld anomaly, Microphthalmia, Po...	OMIM:609218
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia	OMIM:614441
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Blindness, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropeni...	OMIM:598500
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Down-sloping shoulders, Micrognathia, Amblyopia, Hypermetropia, Knee flexion contractur...	OMIM:619694
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H...	ORPHA:99879
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Palmopla...	OMIM:613989
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Aicardi-Goutieres Syndrome 1	Fever, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Diabetes insipidus, Splenomegaly, I...	OMIM:225750
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Tachypnea, Compulsive behaviors, Hypoglutaminemia, Hepatomegaly, Ataxia, Elevat...	ORPHA:3008
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib...	OMIM:241530
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Nephroblastoma, Polydactyly, Microphthalmia, Leukemia	OMIM:602501
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Dysmetria, Micropenis, Hypothyroidism, Ataxia, Cryptorchidism, Dilated cardiomyop...	OMIM:616541
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614495
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Myopia, Sandal gap, Atrial septal defect, Pulmonary arterial hypertensio...	OMIM:300887
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Cataract,...	ORPHA:508542
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Myopia, Visual impairment	ORPHA:1574
Lymphoproliferative Syndrome 2	Fever, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosple...	OMIM:615122
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tac...	OMIM:611560
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Am...	OMIM:615605
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration...	OMIM:617099
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Epistaxis, Impaired ADP-in...	OMIM:614074
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Tachypnea, Hyperammonemia, Organic aciduria, Leth...	OMIM:253270
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Hypertension	OMIM:614496
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Abnormality of T cell physiology, Renal insufficiency, Diabe...	ORPHA:2237
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Hyperactivity, Restlessness, Ventricular septal defect, Ataxia, Myopia, Aggressive be...	ORPHA:369891
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Cataract, Hypothyroidism, Pneumothorax, Renal...	ORPHA:445038
Lissencephaly 8	Talipes equinovarus, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration	OMIM:617255
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid...	OMIM:275350
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pituitary grow...	ORPHA:730
Degcags Syndrome	Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron...	OMIM:619488
Pyruvate Dehydrogenase Deficiency	Ataxia, Tremor, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Chor...	ORPHA:765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Microcytic anemia, Visual loss, Dysphagia, Microphthalmi...	OMIM:612379
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Hypergonadotropic hypogona...	OMIM:600901
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort...	ORPHA:1328
Spondylo-Ocular Syndrome	Pes planus, Myopia, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Visual l...	ORPHA:85194
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Cerebral visual impairment, Inability to walk, Thrombocytopenia, Failure to thrive, Visual impair...	OMIM:616577
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Hematuria, Microphthalmia, Posterior embryotoxon, Iris coloboma, Visua...	ORPHA:1473
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Nonproductive cough, Chorea, Leukopenia, Tubulointer...	ORPHA:289390
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Akinesia, Micrognathia, Cardiomegaly, Thrombocytopenia...	OMIM:608013
Mgat2-Cdg	Respiratory distress, Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Dec...	ORPHA:79329
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Tachyp...	ORPHA:71275
Cyclic Neutropenia	Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent...	ORPHA:2686
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp...	OMIM:211000
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine co...	OMIM:154230
Juvenile Polyposis Syndrome	Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Bohring-Opitz Syndrome	Apnea, Nephroblastoma, Cardiomegaly, Micrognathia, Inability to walk, High myopia, Abnormal cardi...	ORPHA:97297
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, High hypermetropia	OMIM:251700
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia	OMIM:141000
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ...	OMIM:185070
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Apnea, Bradycardia, Opisthotonus	OMIM:619814
Malignant Hyperthermia Of Anesthesia	Fever, Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Myoglobinuria, T...	ORPHA:423
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Myopia, Sandal gap, Impulsivity, Micrognathia, Aggressive behavior, Abnormal repetitive mannerism...	OMIM:618914
Somatostatinoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97283
Congenital Muscular Dystrophy With Cerebellar Involvement	Myopia, Calf muscle pseudohypertrophy, Cataract, Blindness, Optic nerve hypoplasia, Elevated circ...	ORPHA:370959
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Posterior subcapsular cataract, ...	OMIM:602668
African Trypanosomiasis	Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, A...	ORPHA:3385
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Anorexia, Photophobia, Cough, Emphysema, Hepatomegaly, Pericardial e...	OMIM:181000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Myopia, Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Reduced visual acuity...	OMIM:152950
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Small for gestational age, Ventricular septal defect,...	OMIM:227645
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Chilblain Lupus	Raynaud phenomenon, Asthma, Chronic myelomonocytic leukemia, Finger swelling, Increased circulati...	ORPHA:90280
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Myopia, Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentratio...	OMIM:253800
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Atrioventricular block, Reduced bone mineral density, Aspiration pneum...	ORPHA:581
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia...	OMIM:613730
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Elevated circulating...	ORPHA:420741
Selective Igm Deficiency	Lymphadenitis, Paraproteinemia, Decreased proportion of transitional B cells, Thyroid carcinoma, ...	ORPHA:331235
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Dysmenorrhea, Reduced bone mineral density, Decreased serum estradiol, Decreased circulating andr...	ORPHA:90796
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcornea, Male urethral meatus stenosis, Atrial septal defect, Finger syndactyly, Hypospadias,...	ORPHA:464738
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym...	ORPHA:543
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Osteopenia, Pancytopenia, Cataract, Ataxia, Pneumonia, Corneal opacity, Myo...	ORPHA:309288
Cockayne Syndrome	Urinary incontinence, Photophobia, Progressive gait ataxia, Lentiglobus, Intention tremor, Hepato...	ORPHA:191
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Micrognat...	ORPHA:2260
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy...	ORPHA:436159
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Bleeding Disorder, Platelet-Type, 20	Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Leg dystonia, Ankle clonus, Tip-toe gait, Bradycardia, Loss of ambulation, Promin...	ORPHA:565624
Trisomy 13	Anophthalmia, Ventricular septal defect, Cataract, Displacement of the urethral meatus, Cryptorch...	ORPHA:3378
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Cardiocranial Syndrome, Pfeiffer Type	Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Ep...	ORPHA:2872
Interstitial Lung Disease 2	Dyspnea, Clubbing of fingers, Increased circulating antibody level, Cirrhosis, Cough, Decreased D...	OMIM:178500
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma	OMIM:617343
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Schwartz-Jampel Syndrome	Apnea, Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, M...	ORPHA:800
Temtamy Syndrome	Aortic regurgitation, Pes planus, Myopia, Micrognathia, Lens luxation, Ectopia lentis, Hip disloc...	OMIM:218340
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Methylmal...	OMIM:614105
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Leptospirosis	Respiratory distress, First degree atrioventricular block, Anorexia, Cough, Conjunctival hyperemi...	ORPHA:509
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Respiratory...	OMIM:615249
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Blindness, Ataxia, Retinal telangiectasia, Metaphyseal scle...	OMIM:612199
Developmental And Epileptic Encephalopathy 1	Dyspnea, Dysphagia, Choreoathetosis, Dystonia, Microphthalmia, Micropenis	OMIM:308350
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Bone cyst, Osteolysis, Abnorm...	ORPHA:2591
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Stt3B-Cdg	Respiratory distress, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia	ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Micropenis, Failure to thrive, Thrombocytopenia	OMIM:615597
Nanophthalmos	Microphthalmia, High hypermetropia	ORPHA:35612
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Photophobia, Aminoaciduria, Renal Fanconi syndro...	OMIM:219800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Fever, Cerebral vasculitis, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Th...	ORPHA:83601
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Incre...	ORPHA:3409
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Lethargy, Intrahep...	OMIM:614866
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, ...	OMIM:617925
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopen...	ORPHA:79277
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Micropenis, Syndactyly, Myopia, Ataxia, Abnormality of the kidney, Nephrogenic ...	OMIM:209900
Smith-Kingsmore Syndrome	Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidism, Decrease...	OMIM:616638
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Unilateral renal agenesis, ...	OMIM:618494
Joubert Syndrome 9	Cataract, Apnea, Episodic tachypnea, Cerebral visual impairment, Stage 5 chronic kidney disease, ...	OMIM:612285
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Hepatomegaly, Cataract, Ataxia, Corneal opacity, Abnormali...	ORPHA:93400
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Short thumb, Anemia, Bone mar...	OMIM:616435
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Blindness, Ataxia, Exaggerated startle response, Urinary i...	OMIM:268800
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea, Blue irides, Positive ferric chloride test	OMIM:250900
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Cardiomegaly, Micrognathia, Malignant hyperth...	OMIM:614921
Tay-Sachs Disease	Blindness, Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Quadricep...	ORPHA:845
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Peters anomaly, Microphthalmia, Clinodactyly, Ocular anterior segment dysgenesis, Iri...	OMIM:610023
Sandestig-Stefanova Syndrome	Small for gestational age, Rocker bottom foot, Muscular ventricular septal defect, Developmental ...	OMIM:618804
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Acromelic Frontonasal Dysostosis	Syndactyly, Myopia, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Upper airway ob...	OMIM:603671
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, High hypermetropia, Amblyopia	OMIM:613517
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Visual impairment	OMIM:613703
Dubowitz Syndrome	Syndactyly, Pes planus, Hyperactivity, Aplastic anemia, Hypospadias, Micrognathia, Cryptorchidism...	OMIM:223370
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, At...	OMIM:243800
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Short Stature-Micrognathia Syndrome	Myopia, Cataract, Ventricular septal defect, Ataxia, Rhizomelia, Micrognathia, Bowing of the legs...	OMIM:617164
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,...	ORPHA:263455
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Cataract, Ataxia, Small for gestational age, Hypospadias, Tremor, Cryptorchidi...	OMIM:614052
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alph...	OMIM:139090
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Cerebral visual impairment, Inability to walk, Self-injurious behavior, High nonceruloplasmin-bou...	ORPHA:457351
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia	OMIM:258865
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Macroscopic hematuria, Elevated circulating creatinine concentratio...	ORPHA:79233
Trichothiodystrophy	Osteopenia, Gait ataxia, Microcornea, Photophobia, Conjunctivitis, Neutropenia, Intention tremor,...	ORPHA:33364
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia, Overlapping finger...	OMIM:615966
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ...	ORPHA:542306
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Pancreatic fibrosis, Preaxial hand polydactyl...	OMIM:263520
Acute Radiation Syndrome	Fever, Cataract, Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymphop...	ORPHA:454831
Deeah Syndrome	Decreased hemoglobin concentration, Decreased heart rate variability, Decreased response to growt...	OMIM:619004
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo...	OMIM:613839
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Neonatal respiratory distress, Hepatomegaly, Decreased heart ...	OMIM:619005
Glucagonoma	Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev...	ORPHA:97280
16Q24.3 Microdeletion Syndrome	Myopia, Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Micrognat...	ORPHA:261250
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Neph...	OMIM:145001
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutrope...	ORPHA:124
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Hypothermia, Micrognath...	ORPHA:565
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Pneumonia, Short iliac bones, Raynaud phenomenon, Metaphyseal sclerosis, M...	OMIM:607944
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Sandal gap, Hyperactivity, P...	OMIM:251260
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu...	OMIM:617638
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Nanophthalmos 4	Microphthalmia, Reduced visual acuity, Hypermetropia	OMIM:615972
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Ataxia, Elevated circulating creat...	ORPHA:79095
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Fi...	ORPHA:959
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secund...	OMIM:300855
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Thrombocytopenia	OMIM:615750
Cohen Syndrome	Finger syndactyly, Myopia, Ventricular septal defect, Failure to thrive in infancy, Arachnodactyl...	ORPHA:193
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Cataract, Apnea, Micrognathia, Aggressive behavior, Cryptorchidism...	OMIM:608093
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Thyrocerebroretinal Syndrome	Nephritis, Ataxia, Thrombocytopenia, Goiter	OMIM:274240
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Cockayne Syndrome B	Tremor, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Microcornea, Square...	OMIM:133540
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe...	OMIM:602080
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, Bone marrow hy...	OMIM:614520
Japanese Encephalitis	Hyponatremia, Respiratory distress, Fever, Neutrophilia, Genu recurvatum, Anorexia, Tremor, Opist...	ORPHA:79139
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Obesity, Hypogonadism, Delayed ...	ORPHA:141333
Combined Immunodeficiency Due To Crac Channel Dysfunction	Fever, Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of th...	ORPHA:169090
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Elevated circulating creatine kinase concentration, Dyspnea, Achilles tendon contractur...	OMIM:615418
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Bloom Syndrome	Micrognathia, Decreased circulating IgG level, Decreased proportion of CD4-positive T cells, Male...	ORPHA:125
Arima Syndrome	Tachypnea, Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, He...	OMIM:243910
Bloom Syndrome	Syndactyly, Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Decreased fert...	OMIM:210900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Craniosynostosis, Recurrent pneumonia, Increased circulating IgE level,...	OMIM:147060
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatomegaly, Elevated hepatic transaminase, Oroticaciduria, Tachyp...	ORPHA:415
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Emph...	OMIM:620365
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins...	ORPHA:293978
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Shallow anterior chamber, Mic...	OMIM:267760
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Chorea, Panhypopituitarism, Iris co...	ORPHA:2162
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Ataxia, Corne...	ORPHA:1764
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Parathyroid Carcinoma	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:143
Hereditary Folate Malabsorption	Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Anorexia, Megaloblastic anemia, D...	ORPHA:90045
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Ataxia, Corneal opacity, Abnormality of the kidney, Visual loss, Dysmetri...	ORPHA:93399
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Temtamy Syndrome	Pes planus, Brachydactyly, Micrognathia, Short toe, Clinodactyly of the 5th finger, Microphthalmi...	ORPHA:1777
Acquired Purpura Fulminans	Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Hepatic fa...	ORPHA:49566
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Renal hypoplasia/aplasia, Cryptorchidism, Long peni...	ORPHA:1988
Peroxisome Biogenesis Disorder 1A (Zellweger)	Adrenal hypoplasia, Micrognathia, Aminoaciduria, Loss of ambulation, Ulnar deviation of the hand ...	OMIM:214100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Myopia, Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Cry...	ORPHA:404440
Joubert Syndrome With Oculorenal Defect	Blindness, Renal insufficiency, Apnea, Ataxia, Tachypnea, Hand polydactyly, Foot polydactyly, Nep...	ORPHA:2318
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Abnormality of vision, Microphthalmia, Iris coloboma	OMIM:611638
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Cataract, Talipes, Micrognathia, Intrahepatic ...	ORPHA:46059
Frontonasal Dysplasia 1	Cataract, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Radial deviation of finger, Ca...	OMIM:136760
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Intermittent hype...	ORPHA:348
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cataract, Cryptorchidism, High hypermetropia, Vesicouretera...	ORPHA:250989
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Incontinentia Pigmenti	Finger syndactyly, Cataract, Telangiectasia of the skin, Camptodactyly of finger, Eosinophilia, C...	ORPHA:464
Peroxisome Biogenesis Disorder 9B	Cataract, Ataxia, Constriction of peripheral visual field, Nyctalopia, Elevated circulating phyta...	OMIM:614879
3P25.3 Microdeletion Syndrome	Ataxia, Ventricular septal defect, Proximal placement of thumb, Micrognathia, Tapered finger, Bro...	ORPHA:435638
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev...	OMIM:300539
Acute Intermittent Porphyria	Hyponatremia, Restlessness, Tachycardia, Somatic sensory dysfunction, Fever, Urinary incontinence...	ORPHA:79276
Orofaciodigital Syndrome Type 2	Finger syndactyly, Apnea, Broad hallux, Micrognathia, Short tibia, Tachypnea, Adactyly, Broad fir...	ORPHA:2751
Inflammatory Pseudotumor Of The Liver	Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated...	ORPHA:90003
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Tapered finger, Aggressive behavior, Horseshoe kidney, Gait disturbance, A...	ORPHA:65286
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea...	OMIM:616084
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Clinodacty...	OMIM:194050
Leigh Syndrome	Chorea, Choreoathetosis, Complex organic aciduria, Neutropenia, Ataxia, Renal tubular dysfunction...	ORPHA:506
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Dystonia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:606002
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Abnormal r...	ORPHA:488618
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c...	OMIM:615184
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Failure to thrive, Tu...	OMIM:263000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger...	OMIM:616738
Dk Phocomelia Syndrome	Phocomelia, Thrombocytopenia	OMIM:223340
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Increased circulating antibod...	ORPHA:411593
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Tachycardia, Somatic sensory dysfunction, Neurogenic...	ORPHA:79473
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Acute Liver Failure	Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Hyperventilation, Pain insens...	ORPHA:90062
Kniest Dysplasia	Respiratory distress, Hip contracture, Myopia, Cataract, Rhizomelia, Dumbbell-shaped long bone, D...	OMIM:156550
Osteogenesis Imperfecta	Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Femor...	ORPHA:666
Microphthalmia With Limb Anomalies	Anophthalmia, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot...	OMIM:206920
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Finger clinodactyly, Endocardial fibroel...	ORPHA:99776
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Atri...	OMIM:608629
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Tsh-Secreting Pituitary Adenoma	Osteopenia, Bitemporal hemianopia, Abnormal visual field test, Tremor, Elevated circulating thyro...	ORPHA:91347
Cornelia De Lange Syndrome 1	Micromelia, Micrognathia, Proximal placement of thumb, Ectopic kidney, Renal cyst, Microcornea, C...	OMIM:122470
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Failure to thrive, Rh...	OMIM:222765
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Myopia, Renal insufficiency, Glomerular basement membrane lamellation, Protei...	OMIM:301050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric...	OMIM:616812
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Visual ...	OMIM:614946
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Small hand, Talip...	OMIM:619980
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,...	OMIM:147750
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Hip dysplasia, Microph...	ORPHA:195
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atrium, M...	OMIM:615524
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Cholangitis, Orch...	ORPHA:449563
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph...	ORPHA:79106
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb dystonia, Ataxia, Aggressive behavior, Amblyopia, Tremor, Positional foot deformity, Dysmetr...	ORPHA:572798
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Micrognathia, Recurrent pneumonia, Sterile abscess, Bronchiectasis, Decreased circu...	OMIM:618282
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Congenital Varicella Syndrome	Microphthalmia, Cataract, Micromelia	ORPHA:291
Grfoma	Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase...	ORPHA:97261
Warburg Micro Syndrome 3	Cataract, Micrognathia, Cerebral visual impairment, Inability to walk, Developmental cataract, An...	OMIM:614222
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Short prox...	ORPHA:261323
Fanconi Anemia, Complementation Group S	Ataxia, Proximal placement of thumb, Microphthalmia, Clinodactyly, Failure to thrive, Anemia	OMIM:617883
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Myopia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract...	OMIM:612394
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Mitral valve prolapse, Genu valgum, Mi...	ORPHA:2712
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Decreased circulating IgG level, Brachydactyly, Rhizomelia, Flat capital femoral epip...	OMIM:271510
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy, Hypoplasia of the iris, Recurrent...	OMIM:612783
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,...	ORPHA:35858
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peter...	OMIM:618652
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr...	ORPHA:85212
Lassa Fever	Shock, Fever, Menometrorrhagia, Cough, Dyspnea, Jaundice, Oliguria, Increased circulating IgM lev...	ORPHA:99824
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Ataxia, Cataract, Generalized dystonia, Aggressive behavior, Chorea, D...	OMIM:618321
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia	OMIM:152700
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Postaxial polydactyly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholest...	OMIM:302960
Ppoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97278
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Cataract, Apnea, Corneal opacity, Micrognathi...	ORPHA:1052
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Increased circulating interferon-gamma concentration	OMIM:612952
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepati...	OMIM:266920
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Cataract, Telangiectasia of the skin, Diabetes mellitus, ...	ORPHA:1775
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev...	OMIM:620138
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Large for gestational age, Cryptorchidism, Blue ...	OMIM:610733
Hyperparathyroidism-Jaw Tumor Syndrome	Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:99880
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal...	ORPHA:449432
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Ataxia, Unsteady gait, Decreased circulating total IgM, Decreased circulating IgG level, Decrease...	OMIM:300861
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Micrognathia, D...	OMIM:610756
Cockayne Syndrome Type 3	Microcornea, Photophobia, Lentiglobus, Intention tremor, Hepatomegaly, Renal hypoplasia, Hypermet...	ORPHA:90324
Adamantinoma	Hypercalcemia	ORPHA:55881
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Fai...	OMIM:239199
Adult Idiopathic Neutropenia	Fever, Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Mono...	ORPHA:2688
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Cataract, Visual impairment	OMIM:251270
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Ventricular septal defect, Micrognathia, Cryptorchidism, Bilater...	OMIM:601186
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Camptodactyly of finger, Urinary incontinence, Tachypnea, Respiratory ...	OMIM:604320
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Glucose-Galactose Malabsorption	Fever, Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia...	ORPHA:35710
Diamond-Blackfan Anemia 21	Aortic regurgitation, Pes planus, Hallux valgus, Sandal gap, Tapered finger, Secundum atrial sept...	OMIM:620072
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Sotos Syndrome	Ureteral duplication, Tremor, Pedal edema, Atrial septal defect, Vesicoureteral reflux, Hypothyro...	ORPHA:821
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Myelofibrosis, Increased RBC distribution width, Epistaxis, Macrothr...	OMIM:187900
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Palmoplantar ...	ORPHA:3162
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Respiratory insufficiency, D...	OMIM:618042
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300009
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Jacobsen Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Cryptorchidism, Amblyopia, Mi...	OMIM:147791
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ataxia, Postural tremor, Tapered finger, Cerebral visual impairment, Splenomegaly, ...	OMIM:301072
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Hepatosplenomegaly, Azoosper...	ORPHA:2072
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Ataxia, Hypospadias, Phimosis, Thrombocytopenia, ...	OMIM:305000
Chronic Myeloid Leukemia	Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ...	ORPHA:521
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion, Decreased proportion of class-switched memory B cells, Decreased circu...	OMIM:614878
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Myopia, Anophthalmia, Cataract, Proximal placement of thumb, Sclerocornea, Cry...	ORPHA:139471
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Thrombocytopenia	OMIM:619981
Serotonin Syndrome	Fever, Restlessness, Tachycardia, Tremor, Tachypnea, Hypertension, Agitation, Hypotension, Hepati...	ORPHA:43116
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, In...	OMIM:608885
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino...	OMIM:300554
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Anorexia, Bacterial endocarditis, Abnormal...	ORPHA:48435
Cerebrotendinous Xanthomatosis	Cataract, Angina pectoris, Ataxia, Myocardial infarction, Osteoporosis, Respiratory insufficiency...	OMIM:213700
Trichothiodystrophy 1, Photosensitive	Cataract, Small for gestational age, Asthma, Telangiectasia, Microcornea, Photophobia, Keratoconj...	OMIM:601675
Alström Syndrome	Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test...	ORPHA:64
Hartsfield Syndrome	Craniosynostosis, Split hand, Respiratory insufficiency, Aplasia/Hypoplasia of the radius, Microp...	ORPHA:2117
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat...	OMIM:208500
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Thrombocytopenia, Metaphyseal widening,...	OMIM:617941
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th finger, Atrioventricular...	ORPHA:508498
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure, Splen...	ORPHA:90037
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Ventricular septal defect, Hypospadias, Recurrent pneumonia, High hypermetropia, 2-3 to...	OMIM:616449
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Jacobsen Syndrome	Microcornea, Iris coloboma, Long hallux, Broad hallux phalanx, Finger syndactyly, Multicystic kid...	ORPHA:2308
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Microphthalmia, Isolated 4	Microphthalmia, Absent testis, Postaxial polydactyly	OMIM:613094
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Cornea...	OMIM:263700
Gm1 Gangliosidosis Type 1	Blindness, Exaggerated startle response, Hepatosplenomegaly, Hypoplastic vertebral bodies, Cardio...	ORPHA:79255
Igg4-Related Dacryoadenitis And Sialadenitis	Fever, Blindness, Increased circulating IgG4 level, Increased circulating IgA level, Retroperiton...	ORPHA:79078
Joubert Syndrome	Apnea, Episodic tachypnea, Ataxia, Situs inversus totalis, Tremor, Hand polydactyly, Gait disturb...	ORPHA:475
Chronic Pneumonitis Of Infancy	Respiratory distress, Fever, Intercostal retractions, Reduced forced vital capacity, Mediastinal ...	ORPHA:91359
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism, Microcornea, Abnorm...	ORPHA:899
Oculodentodigital Dysplasia	Micrognathia, Microcornea, Abnormality of vision, Clinodactyly of the 5th finger, Finger syndacty...	ORPHA:2710
Chromosome 13Q33-Q34 Deletion Syndrome	Hyperactivity, Small for gestational age, Overlapping toe, Hypospadias, Micrognathia, Tapered fin...	OMIM:619148
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Cryptorchidism, Duplication of phalanx of hallux, Micropenis, Microphthalm...	OMIM:243310
Nance-Horan Syndrome	Short metacarpal, Cataract, Visual loss, Microcornea, Microphthalmia, Visual impairment	ORPHA:627
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Thrombocytopenia, Splenomegaly, Dysphagia, Stridor, Cough, Failure to thrive...	OMIM:230900
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Myopia, Renal insufficiency, Menometrorrhagia, Cataract, Epistaxis, ...	ORPHA:79430
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Letterer-Siwe Disease	Fever, Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Cryptorchidism, Respiratory insufficiency, Thromboc...	ORPHA:1237
Cushing Disease	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ...	ORPHA:96253
Mend Syndrome	Hyperactivity, Cataract, Broad hallux, Overlapping toe, Micrognathia, Aggressive behavior, Long f...	ORPHA:401973
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ataxia, Anemia, Bone marrow hypocellularity, Failure to thrive, Th...	ORPHA:3322
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Mildly elevated ...	OMIM:607459
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ...	OMIM:619774
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal morphology of the radius, Microphthalmia, Ventricular septal defect	ORPHA:3469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Elevated circulating creatine kinase concentration, High myopia, Buphthalmos, Respirato...	OMIM:616538
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia, High hypermetropia	OMIM:251600
Mixed-Type Autoimmune Hemolytic Anemia	Fever, Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubi...	ORPHA:90036
Omodysplasia 1	Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L...	OMIM:258315
Multiple Endocrine Neoplasia Type 2	Prominent corneal nerve fibers, Elevated circulating parathyroid hormone level, Pheochromocytoma,...	ORPHA:653
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Myopia, Apnea, Urinary incontinence, Sinus bradycardia, Hypopnea, Restrictive ve...	OMIM:619482
Mosaic Trisomy 1	Renal cyst, Finger clinodactyly, Micropenis, Absent distal interphalangeal creases, Long toe, Mic...	ORPHA:1692
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Impulsivity, Aggressive...	OMIM:261990
Fanconi Anemia, Complementation Group B	Aplastic anemia, Ventricular septal defect, Hypergonadotropic hypogonadism, Absent thumb, Optic d...	OMIM:300514
Myoclonic-Astatic Epilepsy	Syndactyly, Hyperactivity, Ataxia, Tremor, Unsteady gait, Attention deficit hyperactivity disorde...	ORPHA:1942
Myhre Syndrome	Hypoplastic iliac wing, Atrial septal defect, Ataxia, Pericardial effusion, Cryptorchidism, Short...	OMIM:139210
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Overlapping toe, Inability to walk, Abnormal heart morphology, Astig...	OMIM:618571
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Micrognathia, Microcornea, Iris transillumination defec...	OMIM:617306
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni...	OMIM:105650
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Ocular albinism	OMIM:614171
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Clinodactyly, Radial deviation of finger, Micrognathia	OMIM:188025
Sponastrime Dysplasia	Metaphyseal widening, Delayed epiphyseal ossification, Osteopathia striata, Ivory epiphyses of th...	ORPHA:93357
Microsporidiosis	Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa...	ORPHA:2552
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Ataxia, Micrognathia, Bilateral cry...	ORPHA:2754
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia...	OMIM:613885
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Osteomalacia, Hypercalcemia, Parathormone-independent increased renal tubula...	OMIM:600740
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Cataract, Blindness, Vitreous floaters, Reduced visual acuity, Reduced bo...	ORPHA:891
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Craniosynostosis, Visual impairment	ORPHA:1528
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno...	OMIM:617478
Joubert Syndrome 2	Central apnea, Renal insufficiency, Ataxia, Episodic tachypnea, Abnormal foot morphology, Postaxi...	OMIM:608091
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Fever, Pelvic mass, Reduced C-peptide level, Diplopia, Weight los...	ORPHA:2126
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Congestive heart failure, Microvesicular he...	OMIM:611126
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Adams-Oliver Syndrome 2	Micrognathia, Developmental cataract, Absent distal phalanges, Short middle phalanx of finger, Mi...	OMIM:614219
Premature Aging Syndrome, Penttinen Type	Flexion contracture of finger, Brachydactyly, Corneal opacity, Hyperextensibility of the knee, Mi...	OMIM:601812
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Dysesthesia, Jaw claudication, Weight loss, Syncope, Bradycardia	ORPHA:221098
Warburg Micro Syndrome 4	Inability to walk, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Micropeni...	OMIM:615663
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Elevated circulating...	OMIM:617994
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Hydroureter, Renal hypoplasia/...	ORPHA:568
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax...	OMIM:619879
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor...	OMIM:601399
Oculocerebral Hypopigmentation Syndrome, Cross Type	Myopia, Cataract, Arachnodactyly, Ataxia, Corneal opacity, Ureteral stenosis, Abnormal thumb morp...	ORPHA:2719
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Postaxial han...	ORPHA:85284
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Behçet Disease	Myocardial infarction, Pulmonary embolism, Anorexia, Photophobia, Glomerulopathy, Ataxia, Vasculi...	ORPHA:117
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Atrial septal defect, Phocom...	ORPHA:2538
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Cataract, Ataxia, Elevated circulatin...	OMIM:615356
Joubert Syndrome 37	Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Obesity, Hydronephrosis, Microphthalmia, Mic...	OMIM:619185
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Micrognathia, T lymphoc...	OMIM:617237
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arteritis, Recurrent fe...	OMIM:301054
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Cataract, Arachnodactyly, Ataxia, Abnormality of neutrophils, O...	ORPHA:2720
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Elevated circulating c...	OMIM:137920
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Small ...	ORPHA:555874
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Hyperparathyroidism 1	Primary hyperparathyroidism, Hypercalcemia	OMIM:145000
Focal Dermal Hypoplasia	Acute hepatic failure, Hypoplasia of the iris, Iris coloboma, Finger syndactyly, Multicystic kidn...	ORPHA:2092
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Pes planus, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Moderate myopia, Ectopia lentis...	OMIM:601552
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Elevated circulating creatine kinase concentration, Hypoplasia of the iris, Microcornea, Limb dys...	OMIM:175780
Vitreoretinochoroidopathy	Blindness, Nyctalopia, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorr...	OMIM:193220
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Pain insensitivity, Cataract, Telangiectasia of the skin, Abnormal p...	ORPHA:679
Joubert Syndrome 30	Postaxial hand polydactyly, Tachypnea, Apnea, Reduced visual acuity	OMIM:617622
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Decreased mean platelet volume	OMIM:273900
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Fever, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein...	OMIM:301074
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ...	OMIM:210600
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Viss Syndrome	Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Increased circulating IgG level,...	OMIM:619472
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted...	OMIM:610758
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Hallermann-Streiff Syndrome	Hyperactivity, Cataract, Small for gestational age, Micrognathia, Cryptorchidism, Metaphyseal wid...	OMIM:234100
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Hepatic fibrosis, Bone ...	OMIM:224230
Oculodentodigital Dysplasia, Autosomal Recessive	Myopia, Broad long bones, Cataract, Fifth finger distal phalanx clinodactyly, Micrognathia, 4-5 f...	OMIM:257850
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Decreased proportion of CD3-positive T cells, Decreased circulating IgG level,...	ORPHA:275
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia	OMIM:617244
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Stiff-Person Syndrome	Fever, Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Hypertension, ...	OMIM:184850
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis...	ORPHA:2307
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Cataract, Lower limb asymmetry, Neonatal epiphyseal stippling, Hip...	ORPHA:35173
Meckel Syndrome, Type 1	Adrenal hypoplasia, Micrognathia, Asplenia, Iris coloboma, Accessory spleen, Syndactyly, Malforma...	OMIM:249000
Wolfram Syndrome	Central apnea, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus...	ORPHA:3463
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El...	OMIM:612089
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti...	OMIM:610475
Meckel Syndrome	Ureteral duplication, Anophthalmia, Sclerocornea, Micrognathia, Asplenia, Microcornea, Urethral a...	ORPHA:564
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Von Willebrand Disease, Type 3	Epistaxis, Joint hemorrhage, Menorrhagia, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Atrial septa...	ORPHA:251014
Mercury Poisoning	Respiratory distress, Tachycardia, Anorexia, Tremor, Dyspnea, Hypertension, Hypokalemia, Intersti...	ORPHA:330021
Netherton Syndrome	Decreased circulating IgG level, Allergic rhinitis, Asthma, Increased circulating IgE level, Hype...	OMIM:256500
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Micrognathia, Preaxial hand polydactyly...	OMIM:236680
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Sclerocornea, Cataract, ...	ORPHA:251038
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Ataxia, Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Micro...	OMIM:164200
Hallermann-Streiff Syndrome	Myopia, Micrognathia, Congestive heart failure, Cryptorchidism, Small hand, Respiratory insuffici...	ORPHA:2108
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m...	OMIM:300863
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitatio...	OMIM:618056
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi...	OMIM:613091
Alpha-Mannosidosis, Infantile Form	Osteopenia, Oligosacchariduria, Cortical thickening of long bone diaphyses, Hypoplastic inferior ...	ORPHA:309282
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Papillary thyroid carcinoma, Atrial septal def...	OMIM:118450
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Micrognathia, Tremor, Microvesicular hepatic steatosis, Tachypnea, Aortic ...	OMIM:220111
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Anorexia, Neoplasm of the thymus, Pancreatoblastoma, ...	ORPHA:99889
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp...	ORPHA:88
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet...	OMIM:601709
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertr...	OMIM:619053
Idiopathic Uveal Effusion Syndrome	Metamorphopsia, Abnormal anterior eye segment morphology, Reduced visual acuity, Visual field def...	ORPHA:209956
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Reduced visual acuity, Developmental catar...	OMIM:604229
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Camptodactyly of finger, Short thumb, Cryptorchidism, Abnorm...	OMIM:244300
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Usher Syndrome	Myopia, Blindness, Cataract, Ataxia, Nyctalopia, Vestibular areflexia, Abnormal cardiovascular sy...	ORPHA:886
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Poorly ossified vertebrae, Sh...	OMIM:619135
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia	ORPHA:363741
Werner Syndrome	Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Elevated circulating aspartate aminotran...	OMIM:277700
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism, Split foot, Microcornea	OMIM:601349
Joubert Syndrome 14	Ventricular septal defect, Ataxia, Postaxial polydactyly, Cerebral visual impairment, Renal cyst,...	OMIM:614424
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Scle...	ORPHA:77298
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Anophthalmia, Sclerocornea, Micrognathia, Epispadias, Abnormal penis morpho...	ORPHA:2556
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Nyctalo...	OMIM:260920
Congenital Disorder Of Glycosylation, Type Iiw	Micrognathia, Microcytic anemia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulo...	OMIM:619525
Wound Botulism	Fever, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Diplopia, Urina...	ORPHA:178475
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small for gestational age, Cataract, Micrognathia, Short thumb, Crypt...	OMIM:268400
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Slender long bone, Progressive visual loss, Increased serum testosterone level,...	ORPHA:96181
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia	OMIM:601794
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Agel Amyloidosis	Cataract, Ataxia, Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjunctivit...	ORPHA:85448
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Blindness,...	OMIM:609049
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Treacher-Collins Syndrome	Thyroid hypoplasia, Hypoplasia of penis, Cataract, Micrognathia, Cryptorchidism, Respiratory insu...	ORPHA:861
Acute Transverse Myelitis	Impaired vibratory sensation, Fever, Orthostatic hypotension, Somatic sensory dysfunction, Decrea...	ORPHA:139417
Autoimmune Hemolytic Anemia, Warm Type	Fever, Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive...	ORPHA:90033
Tufted Angioma	Anemia, Paresthesia, Thrombocytopenia	ORPHA:1063
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Cataract, Tremor, Cryptorchidism, Respiratory failure, Atrial septa...	OMIM:620327
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis, Cerebral hemorrhage	ORPHA:3002
Seckel Syndrome 2	Small for gestational age, Hypospadias, Micrognathia, Ectopic kidney, Heart murmur, Clinodactyly ...	OMIM:606744
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Riddle Syndrome	Decreased circulating IgG level, Ataxia	OMIM:611943
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Tremor, Thyrotoxicosis with diffuse goiter, Impaired myocardial cont...	ORPHA:79102
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Campomelic Dysplasia	Respiratory distress, Apnea, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossificatio...	OMIM:114290
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Dystonia, Diabetes mellitus, Unexplained fevers, Cardiomegaly, Ray...	ORPHA:51
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium...	OMIM:619339
Parathyroid Carcinoma	Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia	OMIM:608266
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Apnea, Ataxia, Aggressive behavior, Inability to walk, Bruxism, Astigm...	OMIM:617799
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid...	ORPHA:2470
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Increased circulating antibody level, Eosinophilia	ORPHA:99965
Joubert Syndrome 23	Polydactyly, Tachypnea, Apnea	OMIM:616490
Thrombocytopenia 6	Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia	OMIM:616937
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatiti...	OMIM:240300
Say-Barber-Miller Syndrome	Craniosynostosis, Micrognathia, Talipes equinovalgus, Cryptorchidism, Hip dislocation, Transient ...	ORPHA:3132
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Fever, Eosinophilia, Craniosynostosis, Increased circulating IgE level, Cough	ORPHA:2314
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Renal insufficiency, Proteinuria, Respirator...	OMIM:614748
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral r...	ORPHA:261537
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Mis...	ORPHA:3301
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, Calcaneovalgus ...	ORPHA:261552
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Buphthalmos, Microcornea, Anterio...	OMIM:269400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl...	OMIM:605432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Myopia, Blindness, Cataract, Corneal opacity, Optic nerve hypoplasia, Elevated circulating creati...	OMIM:236670
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Bilateral renal h...	OMIM:243605
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Amblyopia, Neonatal asphyxia, Cryptorchidism, Heart murmur, Multiple bladder diverti...	ORPHA:2728
Peeling Skin Syndrome 1	Eosinophilia, Asthma, Increased circulating IgE level, Palmoplantar hyperhidrosis	OMIM:270300
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Central hypoventilation, Hip dysplasia, Camptodactyly, Atrial...	OMIM:611961
Asparagine Synthetase Deficiency	Blindness, Exaggerated startle response, Optic nerve hypoplasia, Long foot, Micrognathia, Cerebra...	OMIM:615574
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Linear Skin Defects With Multiple Congenital Anomalies 3	Myopia, Cardiac arrest, Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventric...	OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Myopia, Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Hypermetrop...	OMIM:613150
Cystinosis, Adult Nonnephropathic	Photophobia, Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Urachal Cyst	Fever, Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Pyuria, Dy...	ORPHA:488
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Anterior cortical cataract, Red-green dyschromatopsia, Ataxia, Pos...	ORPHA:67036
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Rodrigues Blindness	Blindness, Sclerocornea, Nasal flaring, Microcornea, Microphthalmia	OMIM:268320
Micro Syndrome	Hypoplasia of penis, Cataract, Micrognathia, Cerebral visual impairment, Cryptorchidism, Abnormal...	ORPHA:2510
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Bone marrow hypocellularity	OMIM:609054
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima...	ORPHA:227990
Vici Syndrome	Cataract, Decreased circulating IgG2 level, Ureteral atresia, Cardiomyopathy, Renal tubular acido...	ORPHA:1493
Fatal Familial Insomnia	Fever, Apnea, Ataxia, Diplopia, Weight loss, Urinary retention, Dysphagia	OMIM:600072
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Biliary atresia, Vesicour...	OMIM:115470
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Increased circulating IgA level, Peritonitis, ...	ORPHA:343
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Reduced visual acuity, Hypermetropia, Corneal arcus, ...	OMIM:217300
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestation...	OMIM:229850
Cockayne Syndrome A	Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,...	OMIM:216400
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Ataxia, Cataract, Conjugated hyperbilirubinemia, Jaundice, Hepatosp...	ORPHA:168577
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut...	ORPHA:227982
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic...	OMIM:615665
Facial Clefting, Oblique, 1	Microphthalmia, Talipes calcaneovalgus	OMIM:600251
Weill-Marchesani Syndrome 2	Short metatarsal, Broad metacarpals, Short metacarpal, Shallow anterior chamber, Astigmatism, Pul...	OMIM:608328
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral r...	ORPHA:2152
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea, Dysphagia, Micrognathia	ORPHA:163961
Mucoepithelial Dysplasia, Hereditary	Blindness, Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Keratoconjuncti...	OMIM:158310
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Hypospadias, Junctional ecto...	OMIM:309801
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:260660
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Abnormality of vision, Triphalangeal thumb, Clinodactyly of ...	ORPHA:857
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Congenital hip dislocation, Microphthalmia	OMIM:164180
Marden-Walker Syndrome	Arachnodactyly, Dextrocardia, Hypospadias, Micrognathia, Cryptorchidism, Renal hypoplasia, Radiou...	OMIM:248700
Joubert Syndrome 1	Central apnea, Hyperactivity, Ataxia, Episodic tachypnea, Aggressive behavior, Postaxial hand pol...	OMIM:213300
Monosomy 18P	Generalized dystonia, Micrognathia, Hypertension, Microphthalmia, Hypothyroidism, Brachydactyly	ORPHA:1598
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of vision, Abnormality of...	ORPHA:1606
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Photophobia, Keratoconjunctivitis s...	OMIM:278730
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Increased bone minera...	ORPHA:90652
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Myopia, Brachydactyly, Cataract, Sandal gap, Broad hallux, Reduced visual acuity, Ectopia pupilla...	OMIM:618727
Alport Syndrome 3A, Autosomal Dominant	Myopia, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomeruloneph...	OMIM:104200
Ophthalmomandibulomelic Dysplasia	Blindness, Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Opacif...	OMIM:164900
Charge Syndrome	Anophthalmia, Abnormal tibia morphology, Abnormality of vision, Abnormality of bone mineral densi...	ORPHA:138
Ectodermal Dysplasia-Blindness Syndrome	Blindness, Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of vision, Keratoc...	ORPHA:1806
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cataract, Elevated circulating creatine kinase concentration, Fatigable weakness of bulbar muscle...	ORPHA:363623
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Preaxial hand ...	ORPHA:1553
Adrenomyeloneuropathy	Abnormal libido, Urinary incontinence, Abnormal circulating fatty-acid concentration, Dysesthesia...	ORPHA:139399
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Self-injurious behavior, Atrial septal defect, Microphthalmia	ORPHA:261272
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp...	OMIM:145981
Spondyloocular Syndrome	Osteopenia, Long toe, Pes planus, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Unil...	OMIM:605822
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Microcornea, Atrial septal defect, Contracture of the...	OMIM:300166
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re...	OMIM:601495
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F...	OMIM:610921
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Broad hallux, Aplasia of the thymus, Micrognathia, Amblyopia, Hypothyroidism,...	OMIM:620186
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, Hepat...	ORPHA:373
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
8Q24.3 Microdeletion Syndrome	Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Bilate...	ORPHA:508488
Acromelic Frontonasal Dysplasia	Myopia, Anterior pituitary hypoplasia, Cryptorchidism, Upper airway obstruction, Patellar hypopla...	ORPHA:1827
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur...	OMIM:145980
Trisomy 18	Microretrognathia, Cataract, Ventricular septal defect, Camptodactyly of finger, Cachexia, Abnorm...	ORPHA:3380
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Micrognathia, Tremor, Prominent fingertip pads, Clinodactyly of the 5th fi...	OMIM:612474
Immunodeficiency 58	Recurrent cutaneous abscess formation, Allergic rhinitis, Dysuria, Asthma, Chronic pulmonary obst...	OMIM:618131
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee...	ORPHA:521426
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, M...	OMIM:614225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Reduced visual acuity, Microcornea, Posterior synechiae ...	OMIM:610256
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Microphthalmia-Brain Atrophy Syndrome	Blindness, Tongue thrusting, Bilateral microphthalmos	ORPHA:77299
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Myopia, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Parathormone-independent in...	ORPHA:405
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Myopia, Blindness, Anophthalmia, Cataract, Amblyopia, Visual loss, Abnormality of vision, Chyloth...	ORPHA:2526
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Pes planus, Aggressive behavior, 2-3 toe syndactyly, Gait disturbance, Joint contracture of the 5...	OMIM:620098
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Abnormality of vision...	ORPHA:83461
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Intraalveolar phospholipid ac...	OMIM:265120
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Ataxia, Broad hallux, Micrognathia, Decreased circulating IgA le...	OMIM:617062
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Diabetes mellitus, Pneumonia,...	ORPHA:183675
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ...	OMIM:131100
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Persistent Hyperplastic Primary Vitreous	Blindness, Cataract, Corneal opacity, Amblyopia, Phthisis bulbi, Leukocoria, Reduced visual acuit...	ORPHA:91495
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia, Central adren...	OMIM:615577
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Papa Syndrome	Fever, Proteinuria, Lymphadenopathy, Increased circulating antibody level, Type I diabetes mellitus	ORPHA:69126
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Reduced visual acuity, Microcornea, Microphthalmia, Ocular anterior segment dysgene...	OMIM:615145
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy...	ORPHA:2330
Recon Progeroid Syndrome	Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Keratoconjunctivitis sicca, Long t...	OMIM:620370
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral regurgitation, Exaggerated startle response, Mitral valve prolapse	ORPHA:309155
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Large for gestational age, Tibial bowing, Long hallux, Multicystic kidney ...	ORPHA:500095
Fryns Syndrome	Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Micrognathia, Cryptorchidism, Vesicou...	ORPHA:2059
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Chorea, Lymphadenopat...	ORPHA:536
Nance-Horan Syndrome	Visual loss, Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Mic...	OMIM:302350
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Lon...	OMIM:617527
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,...	ORPHA:3455
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Ventricular septal defect, Dextrocardia, Renal agenesis, Adrenal hypoplasia, Co...	OMIM:264480
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, ...	OMIM:613001
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Tetralogy of Fallot, Microphthalmia, Failure to t...	ORPHA:2328
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Peters anomaly, Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Progeroid Short Stature With Pigmented Nevi	Premature ovarian insufficiency, Small for gestational age, Bicuspid aortic valve, Allergic rhini...	OMIM:176690
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Genu recurvatum, Apnea, Overlapping toe, Hip dislo...	OMIM:617301
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi...	ORPHA:1352
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Atrial septal defect, Aspiration, Vesi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Atrial septal defect, Aspiration, Vesi...	ORPHA:353277
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Photophobia, Corneal ulceration, Conjunctivitis, Chyloth...	OMIM:153400
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Cataract, Jaundice, Chronic kidney disease, Hypermagnesemia, H...	ORPHA:469
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Failure to thrive, Ataxia, Visual impairment	OMIM:616881
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Renal h...	OMIM:614083
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Blindness, Cataract, Ventricular septal defect, Metaphyseal widening, P...	OMIM:259770
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Hypernatriuria, Bicarbonaturia, Hypovolemia, Bicar...	ORPHA:47159
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Peters anom...	OMIM:614643
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Anophthalmia, Rhizomelia, Cataract, Sclerocornea, Hypospadias, Precocious puberty, 2-...	OMIM:615877
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Legius Syndrome	Hyperactivity, Cataract, Dystonia, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephr...	ORPHA:137605
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Hand clenching, Microphthalmia, Visual impair...	OMIM:616920
Dyskeratosis Congenita, Digenic	Failure to thrive, Decreased circulating total IgM, Dysphagia, Decreased circulating IgG level, D...	OMIM:620040
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt...	OMIM:300367
Momo Syndrome	Blindness, Large for gestational age, Abnormality of the thyroid gland, Bilateral microphthalmos,...	ORPHA:2563
Meckel Syndrome, Type 4	Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Bile...	OMIM:611134
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Micrognathia, Cryptorchidism, Camptodactyly...	OMIM:614230
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic iliac wing, Pterygium, Microp...	OMIM:263650
Microcephaly 20, Primary, Autosomal Recessive	Blindness, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis,...	OMIM:617914
Norrie Disease	Blindness, Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Bu...	OMIM:310600
Basal Cell Nevus Syndrome 1	Cataract, Down-sloping shoulders, Plantar pits, Irregular ossification of hand bones, Cardiac fib...	OMIM:109400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Aspiration pneumonia, Vesico...	ORPHA:444077
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Decreased fertility, Microcornea, Keratoconjunctivitis sicca, Micropht...	OMIM:234050
Omodysplasia 2	Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypopl...	OMIM:164745
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Curry-Jones Syndrome	Duplication of thumb phalanx, Unicoronal synostosis, Amblyopia, Preaxial hand polydactyly, 2-3 fi...	OMIM:601707
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Access...	OMIM:268300
Oculoauricular Syndrome	Cataract, Short mandibular rami, Sclerocornea, Ultra-low vision with retained light perception, P...	OMIM:612109
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Multiple Benign Circumferential Skin Creases On Limbs	Hypospadias, Lower limb asymmetry, Micrognathia, Cryptorchidism, Congestive heart failure, Microc...	ORPHA:2505
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Micrognathia, Ectopic kidney, Visual loss, Foot polydactyly, Short pal...	ORPHA:268249
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Chorea, Failure to thrive	OMIM:617864
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Blindness, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytop...	ORPHA:853
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ...	ORPHA:140
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn...	OMIM:227270
Pyoderma Gangrenosum	Fever, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Gm2-Gangliosidosis, Ab Variant	Blindness, Exaggerated startle response, Chorea, Dystonia, Aspiration	OMIM:272750
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Ventricular septal defect, Opti...	OMIM:206900
Blau Syndrome	Fever, Clear cell renal cell carcinoma, Pericarditis, Cataract, Camptodactyly of finger, Keratiti...	ORPHA:90340
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Myopia, Abnormal morphology of ulna, Micromelia, Abnormal tibia morpholog...	ORPHA:2634
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Buphthalmos, Microcornea, Shallow...	OMIM:221900
Pallister-Hall Syndrome	Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Atrial se...	ORPHA:672
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Micrognathia, Short thumb, Cryptorchidism, Hypermet...	OMIM:300895
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Cryptorchidism, Coronal craniosynostosis, Hypogonadism	ORPHA:228390
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata...	OMIM:305600
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Exaggerated startle response, Failure to thrive	OMIM:618201
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Intracranial ...	OMIM:613406
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Bilateral microphthalmos, Clinodactyly of the 5th finger, Microphthalm...	ORPHA:2399
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Vesicoureteral ...	OMIM:616975
Incontinentia Pigmenti	Hypoplasia of the fovea, Cataract, Eosinophilia, Keratitis, Leukocytosis, Retinal hemorrhage, Mic...	OMIM:308300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Leukocytosis, Nyctalopia, Renal hypoplasia, Genu valgum, Abdominal obesit...	OMIM:619321
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Photophobia, Conjunctivitis, Neutropen...	ORPHA:95455
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Myopia, Ven...	OMIM:163950
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Cerebral visual impairment, Hip dislocation, Br...	OMIM:619297
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Ventricular septal defect, Cryptorchidism, 3-4 finger cutaneous syndactyly, Talipes e...	OMIM:612530
Hyperekplexia 3	Respiratory arrest, Exaggerated startle response, Syncope, Apnea	OMIM:614618
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Ureteral ...	OMIM:272950
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Micrognathia, Atrial septal defect, Micropenis, Recurrent aspiration pneum...	OMIM:612289
Frontorhiny	Cataract, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Microphthalm...	ORPHA:391474
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Conjunctival hyperemia	OMIM:167730
Monosomy 9Q22.3	Hyperactivity, Cataract, Large for gestational age, Plantar pits, Cardiac fibroma, Polydactyly, M...	ORPHA:77301
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Clinodactyly of the 5th finger, Atrial septal defect, P...	OMIM:619522
Combined Oxidative Phosphorylation Deficiency 39	Ankle clonus, Dystonia, Type I diabetes mellitus, Sinus bradycardia	OMIM:618397
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene...	OMIM:617666
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking...	ORPHA:320406
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Microcornea, Clinodactyl...	OMIM:619539
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Renal hypoplasia/a...	ORPHA:958
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys...	ORPHA:309246
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Small for gestational ag...	OMIM:606721
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial...	OMIM:304120
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Microphthalmia, Cataract, Ataxia	OMIM:610651
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Microphthalmia	ORPHA:2189
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr...	OMIM:610125
Meckel Syndrome, Type 5	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil...	OMIM:611561
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Blindness, Anophthalmia, Cataract, Hypoplasia of penis, Amblyopia, Cryptorchidism, Visual loss, H...	ORPHA:2250
Spastic Tetraplegia And Axial Hypotonia, Progressive	Ankle clonus, Exaggerated startle response, Overlapping toe, Ataxia	OMIM:618598
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl...	OMIM:184705
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect, Apnea, Trach...	OMIM:300373
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Failure to thrive,...	OMIM:618874
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Reduced visual acuity, Peters anomaly, Vesicoureteral reflu...	OMIM:120200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Decreased body weight	OMIM:614833
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda...	OMIM:603194
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Hypothyroidism	ORPHA:3198
Hyperekplexia 1	Aspiration, Exaggerated startle response, Apnea, Hip dislocation	OMIM:149400
Tay-Sachs Disease	Aspiration, Blindness, Exaggerated startle response	OMIM:272800
Oculo-Palato-Cerebral Syndrome	Cataract, Asthma, Small hand, Leukocoria, Short foot, Microphthalmia	ORPHA:2714
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi...	ORPHA:3186
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Renpenning Syndrome 1	Blindness, Cataract, Ventricular septal defect, Hypospadias, Micrognathia, Situs inversus totalis...	OMIM:309500
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Micrognathia, Adrenal hypoplasia, Microcornea, Clinodactyly of the 5t...	OMIM:607932
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Amblyopia, Hypothyroidism, Lens coloboma, Abnorma...	ORPHA:42775
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Inability to walk, Absent Achilles reflex, Ankle clonus, Pes cavus	OMIM:609541
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Impaired renal concentrating abil...	OMIM:610188
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tachypnea, Ketonuria	OMIM:245050
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Cerebral visual impairment	OMIM:620114
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Norrie Disease	Blindness, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Sclerocornea, Ect...	ORPHA:649
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cerebral visual impairment, Atrial septal defect, Emphysema, Decreased circulating IgG level, Abs...	ORPHA:500150
Hyperekplexia 2	Myopia, Exaggerated startle response, Astigmatism	OMIM:614619
Plague	Respiratory distress, Hepatomegaly, Tachycardia, Fever, Mydriasis, Anorexia, Hematemesis, Splenom...	ORPHA:707
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Renal agenesis, Micrognathia, Missi...	OMIM:200980
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Micrognathia, Bradycardia, Emphysema, Pulmonary insufficiency	OMIM:614437
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae, Myopia	OMIM:156900
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Micrognathia	ORPHA:1915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myopia, Cataract, Elevated circulating creatine kinase concentration, Micrognathia, Buphthalmos, ...	OMIM:253280
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of t...	ORPHA:364577
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Tachypnea, Hypertension, Atrial septal defect, Pulmonary arterial hypertension, M...	OMIM:613834
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Craniosynostosis,...	ORPHA:468631
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Micrognathia, Asplenia, Urethral atresia, Hypoplastic pelvis, Adrenal g...	OMIM:273395
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Cryp...	ORPHA:3412
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Corneal opacity, Micrognathia, Aplasia of the distal phalanx of the 5t...	OMIM:608670
Erythema Elevatum Diutinum	Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Microphthalmia, Posterior lenticonus, Iris coloboma	ORPHA:231736
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Short foot, Optic nerve hypoplasia, Bilateral microphthalmos, Broad proximal phalanges of the hand	OMIM:607597
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Micromelia, Mic...	OMIM:256520
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Long fingers, Microcornea, Micrognathia	OMIM:156610
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Talipes, Adrenal hypoplasia, Micrognathia, Renal hypoplasia/apl...	ORPHA:2166
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Developmental cataract, Congenital hypothyroid...	OMIM:606519
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left ...	OMIM:100300
Orofaciodigital Syndrome Type 4	Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Renal hypoplasi...	ORPHA:2753
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia, Craniosynostosis	OMIM:613451
Skin Creases, Congenital Symmetric Circumferential, 2	Pes planus, Hypospadias, Tapered finger, Micrognathia, Long fingers, Cryptorchidism, 2-3 toe synd...	OMIM:616734
Tibial Hemimelia	Absent tibia	OMIM:275220
Aicardi Syndrome	Cataract, Proximal placement of thumb, Missing ribs, Precocious puberty, Recurrent pneumonia, Hep...	OMIM:304050
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasi...	ORPHA:141099
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an...	OMIM:114065
Cysticercosis	Somatic sensory dysfunction, Ataxia, Diplopia, Increased circulating antibody level, Abnormal myo...	ORPHA:1560
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Blindness, Anophthalmia, Corneal opacity, Hypospadias, Aplasia/H...	OMIM:219000
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Fever, Short humerus, Exaggerated startle response, Short femur, Tapered finger, Cerebral visual ...	OMIM:618367
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cataract, Hypospadias, Cryptorchidism,...	OMIM:603457
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal p...	OMIM:201180
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Broad thumb, Microphthalmia, Iris coloboma	ORPHA:1236
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Overlapping toe, Micrognathia, Cryptorchidism, Hip dislocation, Clinod...	OMIM:613884
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Linear Nevus Sebaceus Syndrome	Abnormality of vision, Microphthalmia, Genu recurvatum, Iris coloboma	ORPHA:2612
Subcorneal Pustular Dermatosis	Hypothyroidism, Hyperthyroidism, Increased circulating antibody level	ORPHA:48377
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Branchiooculofacial Syndrome	Myopia, Anophthalmia, Cataract, Hypospadias, Proximal placement of thumb, Micrognathia, Renal age...	OMIM:113620
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5...	ORPHA:1587
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Monosomy 9P	Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorc...	ORPHA:261112
Aicardi Syndrome	Missing ribs, Precocious puberty, Small hand, Hip dysplasia, Delayed puberty, Hepatoblastoma, Mic...	ORPHA:50
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Camptodactyly of finger, Finger clinodactyly, Aplasia/Hypoplasia of the frontal sinuses...	ORPHA:306542
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Microcornea, Prominent fingertip pads, Iris coloboma, Self-m...	OMIM:309800
Mowat-Wilson Syndrome	Cataract, Ventricular septal defect, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abno...	OMIM:235730
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Fraser Syndrome	Finger syndactyly, Blindness, Anophthalmia, Toe syndactyly, Hypoplasia of penis, Multicystic kidn...	ORPHA:2052
Oculopalatocerebral Syndrome	Microphthalmia, Leukocoria	OMIM:257910
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante...	OMIM:610829
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma	OMIM:610828
Frontofacionasal Dysplasia	Microcornea, Microphthalmia, Cataract, Iris coloboma	OMIM:229400
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Isolated Arrhinia	Respiratory distress, Microphthalmia	ORPHA:1134
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Micrognath...	OMIM:164210
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Treacher Collins Syndrome 1	Micrognathia, Visual loss, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology	OMIM:154500
Holoprosencephaly 2	Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Iris coloboma, Anterior pituitary agenesi...	OMIM:157170
Holoprosencephaly 1	Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus, Single ventricle	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 20.1 Data