Gene Summary

zinc finger and SCAN domain containing 10
Zfp206,  Zscan10

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Zscan10tm2a(EUCOMM)Wtsi HET   Early adult 3.34×10-05
preweaning lethality, incomplete penetrance Zscan10tm2a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Skull Lateral Orientation

13 Images


XRay Images Skull Dorso Ventral Orientation

13 Images


XRay Images Forepaw

13 Images


XRay Images Whole Body Lateral Orientation

15 Images


XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 68 images

View all 7 images

View all 6 images

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.

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 Similarity of
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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