Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

zinc finger protein 950
Zfp826,  BC029127,  Gm34518

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Zfp950 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 Zfp950 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Myocardial infarction, ... ORPHA:54057
Glutamate-Cysteine Ligase Deficiency
Myopathy, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria, Hemolytic anemia ORPHA:33574
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Ret... OMIM:613673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Exercise-induced myoglobinuria, Rhabdomyolysis, Reticulocytosis, Hemolytic anemia, Rena... OMIM:300653
Glycogen Storage Disease Vii
Gout, Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia, Reticulocytosis, ... OMIM:232800
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Thrombocytopenia, Short neck,... ORPHA:3319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatini... OMIM:612926
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased mean c... OMIM:611590
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Myoglobinuria, Hyperbilirubinemia, Decreased hemoglobin concentration, Rhabdomyolysis, ... ORPHA:713
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... OMIM:615631
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... OMIM:274150
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hemolytic anemia, Neonatal hyperbilirubinemia, Splenomegaly, Increased urinary porphobilinogen, I... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... OMIM:224120
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Abnormality of the philtrum, Finger syndactyly, Abnor... ORPHA:3268
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated... OMIM:235400
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Hematuria, Prolonged QTc interv... ORPHA:231111
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... OMIM:161900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Micrognathia, Abnormality of the ureter, Pectus excavatum, Abnormal clavicle morphol... ORPHA:2522
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Splenomegaly, Hypertrophic cardiomyopathy, Nephrotic syndrome, Pectus carinatum, Pro... OMIM:617303
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Igg4-Related Retroperitoneal Fibrosis
Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentration, Hypert... ORPHA:49041
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Anemia, Facial palsy, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Sclero... OMIM:611490
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Hypertension, Episodic hemolytic anemia, Craniosynostosis, ... ORPHA:251004
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Pierre-Robin sequence, Hip contracture, Short thorax, Short long bon... OMIM:618363
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Thrombocytosis, Hypertension, Asplenia, Coombs-positive hemolytic anemia, Hemat... OMIM:614034
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Unconjugated hyperbilirubinemia, Intussusception, Colonic stenosis, Hyponatremia... ORPHA:90038
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Microdontia, Wide mouth, Cone-shaped epiphysis, Macroglossia, N... OMIM:266920
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... OMIM:614817
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehy... OMIM:300908
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Spontaneous, recurrent ep... ORPHA:182050
Nail-Patella Syndrome
Abnormality of the knee, Cubitus valgus, Contracture of the distal interphalangeal joint of the f... ORPHA:2614
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Neutropenia, Myocardial necrosis, Steatorrhea, Pancy... OMIM:260400
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Pulmonary embolism, Pancytopenia, Chronic kidney disease, Hemosi... ORPHA:447
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Short lower limbs, Intracranial hemorrhage, Nephroca... OMIM:241500
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Widely spaced primary teeth, Hypertension, Hypopla... ORPHA:90321
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Butterfly vertebrae, Cleft palate, Smooth philtrum, Pierre-Robin seq... OMIM:611209
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Femoral-Facial Syndrome
Cleft palate, Abnormal localization of kidney, Thin upper lip vermilion, Abnormality of pelvic gi... ORPHA:1988
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Microangiopathic hemolytic anemia, Leukopenia, Abnormality of the urinary sys... ORPHA:93552
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Hereditary Spherocytosis
Restrictive cardiomyopathy, Anemia, Hyperbilirubinemia, Gout, Splenomegaly, Extramedullary hemato... ORPHA:822
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Nephronophthisis, Abnormal sternum morphology, Abnormal cl... ORPHA:474
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... OMIM:210250
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Myopathy, Generalized limb muscle atrophy, Long philtrum, Anemia, Kyph... ORPHA:2598
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Splenomegaly, Increased ... OMIM:194380
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney ... OMIM:603278
Schimke Immunoosseous Dysplasia
Neutropenia, Cerebral ischemia, Shallow acetabular fossae, Transient ischemic attack, Lateral dis... OMIM:242900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Mandibular prognathia, Abnormal form of the vert... ORPHA:2790
Anemia, Renal insufficiency ORPHA:655
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Micrognathia, High palate, Pectus carinatum, Microcytic anemia, Retrognathia, Short ... ORPHA:98791
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... OMIM:235700
Mosaic Trisomy 14
Hypospadias, Micrognathia, Cleft palate, High palate, Wide mouth, Ectopic anus, Narrow chest, Abn... ORPHA:1703
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis, Skeletal muscle atrophy OMIM:274240
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency OMIM:162000
Dopamine Beta-Hydroxylase Deficiency
Syncope, Rhinitis, Orthostatic hypotension, Elevated circulating creatinine concentration, Orthos... ORPHA:230
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:673
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulcerative colitis OMIM:619398
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Hyperammonemia, Uveitis, Maculopapular exanthema, Capillar... ORPHA:99826
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Micrognathia, Abnormality of the ureter, Thin vermilion border, Anemia, Splenomegaly... ORPHA:1046
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Spl... ORPHA:288
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Rh Deficiency Syndrome
Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Cleft palate, Abnormal form of the vertebra... ORPHA:2635
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cleft palate, Ectopic anus, Abnormal sacrum morphology, Abno... ORPHA:2345
Diamond-Blackfan Anemia 1
Cleft palate, Neutropenia, Triphalangeal thumb, Tricuspid stenosis, Hypoplasia of the radius, 11 ... OMIM:105650
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Abnormal renal physiology, Elevated circulating creatinine... OMIM:223900
Juberg-Hayward Syndrome
Hypospadias, Horseshoe kidney, Toe syndactyly, Radioulnar synostosis, Abnormality of the elbow, A... ORPHA:2319
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis OMIM:616649
Axial Mesodermal Dysplasia Spectrum
Abnormal intestine morphology, Abnormality of the knee, Abnormal form of the vertebral bodies, Ab... ORPHA:1834
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Short ribs, Foot polydactyly, Conjugated hyperbilirubinemia, Hand polyd... OMIM:208500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:612653
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Hyperlipid... ORPHA:1830
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... OMIM:109270
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Renal cyst, Anemia, Gout, Hyperuricemia, Nephrop... OMIM:617056
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... ORPHA:90044
Potocki-Shaffer Syndrome
Hypertension, Micrognathia, Short philtrum, Anemia, Micropenis, Downturned corners of mouth, Neph... ORPHA:52022
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Long... OMIM:141750
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Reversible renal failure, Abnormality of the mouth... OMIM:607665
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:182900
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticuloc... OMIM:266200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Purple urine, Red-brown urine, Porphyrinuria, Splenomegaly, Incr... ORPHA:79277
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Arthritis, Vasculitis, Glomerulopathy, Persistence of primary teeth, Proteinur... ORPHA:375
Prune Belly Syndrome
Pectus excavatum, Abnormality of the ureter, Congenital posterior urethral valve, Hydroureter, Ap... ORPHA:2970
Lesch-Nyhan Syndrome
Hematuria, Anemia, Gout, Hyperuricemia, Renal insufficiency ORPHA:510
Keratoconjunctivitis sicca, Myopathy, Decreased HDL cholesterol concentration, Hypocholesterolemi... ORPHA:14
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Hypercalcemia, Bowing of the long bones, Craniosynostosis, Anemia, Abnormality of the metaphysis,... ORPHA:436
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertension, Nephrotic syndrome, Anemia, Hyperlordosis, Nephropathy, Proteinuria ORPHA:1192
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abnormal for... ORPHA:1801
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Abnormal intervertebral disk morphology, Abnormality of the ureter, Cleft palate, Lo... ORPHA:2311
Pearson Syndrome
Neutropenia, Lacticaciduria, Cardiac conduction abnormality, Hypophosphatemia, Splenomegaly, Stea... ORPHA:699
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Alstrom Syndrome
Dilated cardiomyopathy, Chronic active hepatitis, Hypertension, Decreased HDL cholesterol concent... OMIM:203800
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia OMIM:130600
Autosomal Dominant Spondylocostal Dysostosis
Cleft palate, Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina... ORPHA:1797
Melnick-Needles Syndrome
Hydronephrosis, Micrognathia, Short clavicles, Abnormality of the pubic bone, Bowing of the long ... ORPHA:2484
Diastrophic Dysplasia
Micrognathia, Cleft palate, Short finger, Abnormality of epiphysis morphology, Ulnar deviation of... ORPHA:628
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Neutropenia, Abnorma... ORPHA:175
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth... OMIM:619113
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Genu varum, Phocomelia, Finger syndactyly, Tibial torsion, Micrognathia, Aplasia/Hy... ORPHA:3320
Mucopolysaccharidosis Type 4
Carious teeth, Abnormal dental enamel morphology, Short thorax, Mucopolysacchariduria, Pectus car... ORPHA:582
Mucopolysaccharidosis, Type Iva
Carious teeth, Epiphyseal deformities of tubular bones, Chondroitin sulfate excretion in urine, K... OMIM:253000
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Hypertension, Pericarditis, Nephrotic syndrome, Nephritis, Arthritis,... ORPHA:91139
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Chronic otitis media, Abnormality of the philtrum, Abnormal clavicle morphology, Abn... ORPHA:276422
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Short ribs, Joint contracture of the hand, Camptodactyly, Short long ... OMIM:228520
Severe Hemophilia A
Macroscopic hematuria, Limb joint contracture, Intracranial hemorrhage, Epidural hemorrhage, Syno... ORPHA:169802
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Aplasia/Hypoplasia of the phalanges of the hallux, Abnormal vertebral morphology, ... ORPHA:337
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Abnormality of epiphysis morphology, Bowing of the long bones, Abno... ORPHA:93267
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Unilateral absence of pectoralis major muscle, ... OMIM:173800
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Cleft palate, Triphalangeal thumb, Increased mean corpuscular vo... OMIM:612561
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Hypertrophy of the urinary bladder, Renal dysplasia, Anal atresia, Sprengel ano... OMIM:601389
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:266900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Type 2 muscle fiber atrophy, Leukopenia, Chronic kidney disease, Pulmonary arterial... OMIM:613845
Mucopolysaccharidosis, Type Ivb
Carious teeth, Epiphyseal deformities of tubular bones, Aortic valve stenosis, Kyphosis, Flaring ... OMIM:253010
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Renal dysplasia, Abnormal rib morphology, Ectopic kidney, Short neck, Vertebral s... ORPHA:2578
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Retinal Venous Beading
Retinal neovascularization, Nephritis, Neutropenia, Vitreous hemorrhage OMIM:180080
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal palate morphology, Micrognathia, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, To... ORPHA:3082
Blackfan-Diamond Anemia
Hypospadias, Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Cleft l... ORPHA:124
3M Syndrome
Hypospadias, Abnormal dental enamel morphology, Short thorax, Delayed eruption of teeth, Hypoplas... ORPHA:2616
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Albers-Schönberg Osteopetrosis
Carious teeth, Abnormality of epiphysis morphology, Anemia, Abnormality of the metaphysis, Arthri... ORPHA:53
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Interphalangeal joint contracture of finger, Ankle flexion contracture, Hi... ORPHA:1145
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality ... ORPHA:1842
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Thick lower lip vermilion, Hydronephrosis, Reduced alpha/beta synthesis ratio, Renal... OMIM:301040
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Short iliac bones, Metaphyseal widening, ... OMIM:614376
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Muckle-Wells Syndrome
Abnormal palate morphology, Episcleritis, Nephrotic syndrome, Anemia, Arthritis, Splenomegaly, Uv... ORPHA:575
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal form of the vertebral bodies, Splenomegaly, Hepatosplenomegaly, Abn... ORPHA:464329
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Azo... OMIM:104200
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Anemia, Punctate keratitis, Keratitis, Muscular dystrophy, Enamel hypoplasia, Uret... OMIM:226670
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephritis, Stage 5 ch... OMIM:301050
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:606996
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,... ORPHA:93315
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormal vertebral morphology, Abno... ORPHA:324964
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Poland Syndrome
Hypospadias, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morpholog... ORPHA:2911
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Hepatitis, Anemia, Abnormal hemoglo... ORPHA:848
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Cholecystitis, Nephrocalcinosi... ORPHA:90041
Cleidocranial Dysplasia
Carious teeth, Sinusitis, Cleft palate, Chronic otitis media, Abnormal dental enamel morphology, ... ORPHA:1452
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis, Narrow chest, Abn... ORPHA:1354
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Hypoplasia of the radiu... ORPHA:3258
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Renal insufficiency, Hyperammonemia ORPHA:28
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelonephr... ORPHA:730
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Anemia, Back p... ORPHA:210110
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Anal atresia, Renal hypoplasia/aplasia, Hip dysp... ORPHA:195
Posterior Urethral Valve
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... ORPHA:93110
Schneckenbecken Dysplasia
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... ORPHA:93351
Renpenning Syndrome
Hypospadias, High, narrow palate, Pectus excavatum, Cleft palate, Skeletal muscle atrophy, Short ... ORPHA:3242
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Mucopolysaccharidosis, Type Vi
Anterior wedging of L1, Hypoplastic iliac wing, Macroglossia, Metaphyseal widening, Hypoplastic a... OMIM:253200
Rhabdoid Tumor
Hypercalcemia, Hypertension, Thrombocytopenia, Hematuria, Anemia, Renal neoplasm, Internal hemorr... ORPHA:69077
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Abnormal renal physiology, Anemia, Hyp... ORPHA:158057
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Flat acetabular roof, Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic ili... OMIM:609616
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia, R... ORPHA:289916
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Leukopenia, Stage 5... OMIM:251000
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Nephrocalcinosis, Narrow chest, Be... OMIM:615633
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis, High palate, Cleft palate, Neutropenia, Leukopenia, Monocytosis, Broad thumb, Pec... OMIM:612541
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypoplastic inferior... OMIM:608940
Arteriosclerosis, Severe Juvenile
Hypertension, Gastric ulcer, Anemia, Myocardial infarction, Hip dysplasia, Chronic kidney disease... OMIM:208060
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, Nephropathy ORPHA:100024
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytop... ORPHA:27
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration, Abnormal concentratio... ORPHA:51208
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Eczema, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Panniculitis, G... ORPHA:508542
Relapsing Fever
Leukocytosis, Leukopenia, Abnormality of the urinary system, Hematuria, Elevated circulating crea... ORPHA:91547
Mucopolysaccharidosis Type 6
Thick lower lip vermilion, Sinusitis, Mucopolysacchariduria, Macroglossia, Chronic otitis media, ... ORPHA:583
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Abnormality of epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia,... ORPHA:2643
Osteogenesis Imperfecta
Carious teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Delayed ... ORPHA:666
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Hyperammonemia, Thrombocytopenia... ORPHA:79312
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Short ribs, Supernumerary ve... OMIM:215140
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula... ORPHA:958
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Thick lower lip vermilion, Hydronephrosis, Aganglionic megacolon, Infectious encephalitis, U-Shap... ORPHA:847
Hand-Foot-Genital Syndrome
Hypospadias, Proximal placement of thumb, Pseudoepiphyses, Micropenis, Short 1st metacarpal, Uret... OMIM:140000
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Small epiphyses, High palate, Anterior rib cupping, Metaphyseal cupping of metacarpals, Wormian b... OMIM:300232
Dermotrichic Syndrome
Aminoaciduria, Aganglionic megacolon, Anemia, Abnormal vertebral morphology ORPHA:99688
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Anemia, Renal hypoplasia/aplasia, Thrombocytopenia, Renal insufficiency ORPHA:2123
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Absent tibia, Hamartoma of tongue, Renal dysplasia, Short ribs, Micropenis, Femoral... OMIM:613091
Congenital Factor Ii Deficiency
Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Anemia, Microscopic hematuria, Oral cavity ... ORPHA:325
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Spinal canal stenosis, Tendon rupture, Reduced ejection fraction, An... ORPHA:85451
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... ORPHA:229717
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Renal agenesis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Duplicated col... OMIM:227645
Diamond-Blackfan Anemia 10
Macrocytic anemia, Micrognathia, Cleft palate, Congenital diaphragmatic hernia, Anemia, Reticuloc... OMIM:613309
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Absent uvula, Broad toe, Micropenis, Hypoplastic sacru... OMIM:268310
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Aganglionic megaco... OMIM:250250
Immunodeficiency 69
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatosplenomegaly, Eosinoph... OMIM:274000
Feingold Syndrome Type 1
2-3 toe syndactyly, Short middle phalanx of finger, Duodenal atresia, Tricuspid stenosis, Renal d... ORPHA:391641
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Thoracic hypoplasia, Hydronephrosis, Cleft palate, Micrognathia, Adducted thumb, Hyp... OMIM:616897
Kenny-Caffey Syndrome, Type 1
Carious teeth, Long clavicles, Thin clavicles, Thin ribs, Delayed closure of the anterior fontane... OMIM:244460
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Hemivertebrae, Mandibular prognathia, Abnormal form of the vertebral bodies, Abnorma... ORPHA:2180
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... OMIM:615234
Uremic Pruritus
Inflammatory abnormality of the skin, Hypercalcemia, Stage 5 chronic kidney disease, Recurrent sk... ORPHA:94059
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Gingival overgrowth, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, ... OMIM:259720
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Cleft palate, Hip contracture, Skeletal muscle hypertrophy, Protrusio aceta... ORPHA:800
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Chronic h... ORPHA:231226
Trisomy 13
High, narrow palate, Hydronephrosis, Abnormality of the ureter, Cleft palate, Long philtrum, Abno... ORPHA:3378
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Horseshoe kidney, Cone-shaped epiphysis, Mitral regurgitation, Long philtrum, ... OMIM:157800
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Craniosynostosis, Finger syndactyly, Split hand, Abnormality of the u... ORPHA:2145
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Cleft palate, Micrognathia, Thin ribs, Craniosynostosis, Arthrogryposis multiplex... OMIM:618265
Diamond-Blackfan Anemia 11
Cleft palate, Neutropenia, Radioulnar synostosis, Renal agenesis, Anemia, Hypoplasia of the radiu... OMIM:614900
Diamond-Blackfan Anemia 5
Hypospadias, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Reticulocytopenia OMIM:612528
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... OMIM:203780
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2668
Cleft palate, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short ribs, Abnormalit... ORPHA:2021
Sprengel Deformity
Cervical segmentation defect, Shoulder muscle hypoplasia, Neck muscle hypoplasia, Hemivertebrae, ... OMIM:184400
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Open bite, Bowing of ... ORPHA:2097
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Short metatarsal, Prominent calcaneus, Enlargement of the costochondral... OMIM:223800
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Villous atrophy, Anemia, Splenomegaly, Increased circulating ferritin concentrat... OMIM:616050
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Nephrotic syndrome, Elevated circulating c... OMIM:607426
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Abnormality of the cervical spine, Parotitis, ... ORPHA:449427
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys... ORPHA:93598
Lymphangiectasia, Intestinal
Prominent floating ribs, Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neo... OMIM:152800
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Renal agenesis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Duplicated col... OMIM:600901
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Lymphadenitis, Anemia, Increased circulating fer... OMIM:618886
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Thick lower lip vermilion, Thickened ribs, Wide mouth, Drooling, S... OMIM:252940
Hb Bart'S Hydrops Fetalis
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Increased intervertebral space, Oligodontia, Short ribs, Delayed eruption of teeth, Progressive b... OMIM:224300
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Pectus car... ORPHA:3068
Beta-Thalassemia Major
Dilated cardiomyopathy, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcy... ORPHA:231214
Xanthinuria, Type I
Hydronephrosis, Hyperxanthinemia, Myopathy, Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria OMIM:278300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Hepatosplenomegaly, Conjunctivitis, Hypertrophic cardiomyopathy, Nephrotic syndr... ORPHA:505248
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Renal agenesis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Duplicated col... OMIM:227650
Holt-Oram Syndrome
Pectus excavatum, Triphalangeal thumb, Phocomelia, Atrioventricular block, Aplasia/Hypoplasia of ... ORPHA:392
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Odontogenic neoplasm, Thrombocytopenia, Chronic otitis media, Hypophosphatemia, Pr... ORPHA:534
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Erythroid hyp... ORPHA:231222
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Thrombocytopenia, Mandibular prognathia, Chronic rhinitis due to narrow nasal airw... OMIM:259710
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Sandwich appearance of vertebral bodies, Craniosynostosis, Anemia, Facial palsy, S... OMIM:259700
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Micrognathia, Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, H... OMIM:614857
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Cleft palate, Neutropenia, Anemia, Short middle phalanx ... OMIM:616738
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Hemivertebrae, Abnormality of the philtrum, Aplasia/Hypoplasia of the to... ORPHA:2759
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thickened ribs, Beaking of vertebral bodies,... OMIM:230500
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Polycythemia, Increased hematocrit, Abnormality of the k... ORPHA:284227
Goodpasture Syndrome
Macroscopic hematuria, Anemia, Pulmonary hemorrhage, Cylindruria, Increased blood urea nitrogen, ... OMIM:233450
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
High palate, Neutropenia, Anemia, Syndactyly, Polymicrogyria, Thrombocytopenia, Aminoaciduria, Ke... OMIM:614520
Alagille Syndrome
Hypertension, Micrognathia, Abnormality of the ureter, Short philtrum, Nephrotic syndrome, Abnorm... ORPHA:52
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Arthritis, Cardiomyop... OMIM:604250
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Vacterl/Vater Association
Hypospadias, Hydronephrosis, Abnormal intervertebral disk morphology, Cleft palate, Hypoplasia of... ORPHA:887
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Pectus excavatum, Pectus carinatum, Platyspondyly, Wormian bones, Kyphosis, Be... OMIM:259440
Radio-Renal Syndrome
High, narrow palate, Micrognathia, Renal agenesis, Abnormality of the elbow, Renal dysplasia, Abn... ORPHA:3015
Hurler Syndrome
Hypertension, Mucopolysacchariduria, Spinal canal stenosis, Abnormality of the elbow, Abnormal ve... ORPHA:93473
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Cleft palate, Anemia, Esophageal atresia, Anal atresia, Micropenis, Tracheoesop... OMIM:614083
Cornelia De Lange Syndrome 1
Hypospadias, Pyloric stenosis, 2-3 toe syndactyly, Cleft palate, Phocomelia, Proximal placement o... OMIM:122470
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Synovial hypertrophy, Abnormal hip joint morphology, Synovitis, Ankle swelling, Hip osteoarthriti... ORPHA:85408
Shwachman-Diamond Syndrome
Carious teeth, Sinusitis, Eczema, Neutropenia, Leukemia, Metaphyseal irregularity, Delayed erupti... ORPHA:811
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Hypoplasia of the femoral head, Pneumonia, Salmonella osteomyelitis... OMIM:209950
Idiopathic Aplastic Anemia
Neutropenia, Gingival bleeding, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytope... ORPHA:88
Abnormality of the vertebral column, Sinusitis, Intracranial hemorrhage, Neutropenia, Infectious ... ORPHA:1163
Otopalatodigital Syndrome Type 2
Hypospadias, Cleft palate, Pierre-Robin sequence, Oligodontia, Camptodactyly of finger, Micrognat... ORPHA:90652
Myhre Syndrome
Hypospadias, Cleft palate, Skeletal muscle hypertrophy, Gingival cleft, Hypoplasia of the maxilla... ORPHA:2588
Lead Poisoning
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Decreased HDL choleste... ORPHA:330015
Campomelic Dysplasia
Thoracic hypoplasia, Hydronephrosis, Cleft palate, Micrognathia, Shortening of all phalanges of t... OMIM:114290
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Diamond-Blackfan Anemia 12
Macrocytic anemia, Elevated red cell adenosine deaminase level, Triphalangeal thumb, Normochromic... OMIM:615550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Villous atrophy, Neutropenia, Erythroderma, Coombs-positive hemolytic anemi... OMIM:304790
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Foot polydactyly, Hand polydactyly, Rudimentary fibula, Elbow flexion c... OMIM:200980
Gaucher Disease Type 1
Gingival bleeding, Leukopenia, Osteoarthritis, Hematuria, Pulmonary arterial hypertension, Anemia... ORPHA:77259
Multiple Pterygium Syndrome, Escobar Variant
Hypospadias, Cleft palate, Syndactyly, Dysplastic patella, Micrognathia, High palate, Patellar ap... OMIM:265000
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Hemolytic anemia, P... OMIM:619487
Three M Syndrome 2
High palate, Thin ribs, Pectus carinatum, Long philtrum, Prominent calcaneus, Short thorax, Delay... OMIM:612921
Mosaic Trisomy 8
Hydronephrosis, Cleft palate, Micrognathia, High palate, Patellar aplasia, Narrow pelvis bone, Ar... ORPHA:96061
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Pancytopenia, Elliptocytosis, Micrognathia, High palate, Abnorma... ORPHA:2785
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal ilium morphology, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft... ORPHA:1505
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction... OMIM:220110
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect OMIM:608681
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Achondrogenesis Type 1B
Micrognathia, Long philtrum, Short thorax, Short foot, Narrow chest, Abnormal rib morphology, Sho... ORPHA:93298
Al Amyloidosis
Abnormal salivary gland morphology, Hypertrophic cardiomyopathy, Abnormal P wave, Nephrotic syndr... ORPHA:85443
Dubowitz Syndrome
Hypospadias, Acute lymphoblastic leukemia, Rectal prolapse, Eczema, Aplasia/Hypoplasia of the thu... ORPHA:235
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Leukopenia, Pneumonia, Abnormal circulating lipid concentrati... ORPHA:2298
Propionic Acidemia
Eczema, Neutropenia, Limb hypertonia, Anemia, Pancreatitis, Hyperglycinemia, Hyperammonemia, Incr... OMIM:606054
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Gingival bleeding, Increased mean corpuscular volume, Anemia, Hyperbilirubi... ORPHA:98870
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Recurrent intrapulmonary hemorrhage, Transi... ORPHA:183
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Skeletal muscle atrophy, Abnormality of the elbow, Abnormal form of the vertebral b... ORPHA:1486
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Diastasis r... ORPHA:440713
Imbalanced hemoglobin synthesis, Myositis, Leukemia, Pure red cell aplasia, Rheumatoid arthritis,... ORPHA:99867
Porphyria Variegata
Hyponatremia, Hypertension, Porphyrinuria, Anemia, Back pain, Tachycardia, Increased urinary porp... ORPHA:79473
Campomelia, Cumming Type
Abnormal intestine morphology, Cleft palate, Bowing of the long bones, Abnormal thorax morphology... ORPHA:1318
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutrope... ORPHA:37042
Achondrogenesis, Type Ii
Horizontal ribs, Cleft palate, Broad long bones, Hypoplastic iliac wing, Short ribs, Absent verte... OMIM:200610
Mucopolysaccharidosis, Type Iiic
Ovoid thoracolumbar vertebrae, Thickened ribs, Kyphoscoliosis, Splenomegaly, Everted lower lip ve... OMIM:252930
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Genu varum, Microdontia, Broad long bones, Mandibular prognathia, Cub... OMIM:269300
Familial Benign Copper Deficiency
Diaphyseal thickening, Acne, Anemia, Deep philtrum, Decreased circulating copper concentration ORPHA:1551
Mirage Syndrome
Hypospadias, Hyponatremia, Hyperkalemia, Intracranial hemorrhage, Radial club hand, Leukopenia, R... OMIM:617053
Sinusitis, Myocarditis, Cholangitis, Hepatitis, Abnormality of the urinary system physiology, Inf... ORPHA:2552
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Missing ribs, Short thorax,... OMIM:613686
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Glutaric aciduria, Anemia, Hyperammonemia, Increased level of hippuric acid in urine, Hyperuricem... OMIM:246450
Hardikar Syndrome
Cholangitis, Esophageal varix, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Hypoplasia of the... OMIM:301068
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Methylmalonic aciduria, Abnormality of the mouth, Reticulocytopen... OMIM:275350
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Gingival bleeding, Leukopenia, Stomatitis, Hematuria, Epistaxis, Gingi... ORPHA:520
White Forelock With Malformations
Abnormal palate morphology, Deep philtrum, Finger syndactyly, Sprengel anomaly, Abnormal rib morp... ORPHA:2475
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Hepatosplenomegaly, Fibular overgrowth, Narrow vertebral in... ORPHA:93352
Kniest-Like Dysplasia, Lethal
Cleft palate, Coronal cleft vertebrae, Metaphyseal irregularity, Platyspondyly, Short ribs, Short... OMIM:245190
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Tapered f... OMIM:618395
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Complete duplication of thumb phalanx, Micropenis, Reticulocytopenia, Panc... OMIM:227646
Fanconi Anemia, Complementation Group T
Anemia, Short thumb, Pancytopenia, Thrombocytopenia, Duplication of thumb phalanx OMIM:616435
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Hamartoma of tongue, Microglossia, Short ribs, Micropenis, Short long bone, Pectus ... OMIM:263520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Short ribs, Severe platyspondyly, Disc-like vertebral bodies, Hyp... OMIM:151210
Gaucher Disease, Type I
Hypertension, Mitral regurgitation, Epistaxis, Anemia, Pulmonary arterial hypertension, Splenomeg... OMIM:230800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Anterior rib cupping, Pneumonia, Abnormality of pelvic girdle bone ... OMIM:102700
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Micrognathia, Tibial bowing, Thin ribs, Pulmonary arterial hypertensi... OMIM:259420
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Hypochromic microcytic anemia, Long philtrum, Anemia, Hyperalaninemia, Narrow mouth,... OMIM:619147
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Abnormality of neuronal migration, Myopathy, Myoglobinuria, Tubulointerst... ORPHA:157
Myocarditis, Splenic abscess, Pericarditis, Infectious encephalitis, Pustule, Pneumonia, Endocard... ORPHA:533
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Irregular vertebral e... OMIM:187760
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, Decreased plasma free carnitine, Tubulointerstitial nephritis,... ORPHA:228308
Alveolar Echinococcosis
Cholangitis, Abnormal skeletal muscle morphology, Abnormal vertebral morphology, Budd-Chiari synd... ORPHA:284
Kagami-Ogata Syndrome
Long clavicles, Micrognathia, Thin ribs, Long philtrum, Long fingers, Kyphoscoliosis, Pulmonary a... OMIM:608149
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Cleft palate, Genu varum, Short ribs, Joint contracture of the hand,... OMIM:224690
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... OMIM:618849
Fabry Disease
Hypertension, Lipiduria, Urinary mulberry cells, Anemia, Left ventricular hypertrophy, Myocardial... OMIM:301500
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Perisylvian polymicrogyria, Abnormal rib morphology, Abnormal vertebral m... ORPHA:280195
Prolidase Deficiency
Micrognathia, High palate, Eczema, Diffuse telangiectasia, Anemia, Splenomegaly, Crusting erythem... OMIM:170100
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Duodenal atresia, Leukopenia, Pneumonia, Pelvic kidney, Anemia, Hypoplasia of t... OMIM:603467
Sinusitis, Myocarditis, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Melena, Gastritis, ... ORPHA:73263
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Splenomegaly, Heparan sulfate excretion in urine, ... OMIM:252900
Simpson-Golabi-Behmel Syndrome
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Splenomegaly, Fi... ORPHA:373
Osteogenesis Imperfecta, Type X
Pyloric stenosis, Micrognathia, Thin ribs, Bowing of the long bones, Platyspondyly, Nephrolithias... OMIM:613848
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of the vertebral bodies, Abnor... ORPHA:2234
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Abnormality of the urinary system, Anemia, Esophageal stricture, Urethral strictur... ORPHA:79409
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Anemia, Skeletal muscle atrophy, Hyperuricemia ORPHA:371
Plasminogen Deficiency, Type I
Duodenal ulcer, Nephritis, Gingival overgrowth, Nephrolithiasis, Periodontitis, Gingivitis, Conju... OMIM:217090
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Int... ORPHA:3035
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, 2-3 toe syndactyly, Renal agenesis, Hypertension, Mandibular prognathia, Pyelon... OMIM:181270
Kindler Epidermolysis Bullosa
Carious teeth, Inflammation of the large intestine, Short 5th metacarpal, Abnormal dental enamel ... ORPHA:2908
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Increased muscle lipid content, Elevated circulating... ORPHA:228302
Cerebrocostomandibular Syndrome
11 pairs of ribs, Rib gap, Short humerus, Ectopic kidney, Elbow flexion contracture, Micrognathia... OMIM:117650
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Abno... ORPHA:93941
Omenn Syndrome
Leukocytosis, Erythroderma, Nephrotic syndrome, Pneumonia, Abnormal lymphocyte morphology, Anemia... ORPHA:39041
Occipital Horn Syndrome
Capitate-hamate fusion, Limited elbow extension, Short humerus, High palate, Pectus carinatum, Lo... OMIM:304150
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Camurati-Engelmann Disease
Abnormality of the vertebral column, Carious teeth, Abnormality of the ulna, Metaphyseal dysplasi... ORPHA:1328
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Metaphyseal irregularity, Hypophosph... OMIM:239200
X-Linked Hypophosphatemia
Genu varum, Hypophosphatemia, Odontodysplasia, Bowing of the legs, Flared iliac wing, Bowing of t... ORPHA:89936
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Myopathy, High palate, Thin ribs, Neonatal death, Micropenis, Retrognathia, Centrall... OMIM:300219
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Splenomegaly, Absent natural killer cells, Incr... ORPHA:2442
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Nephrotic syndrome, Infectious encephali... ORPHA:139402
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Cleft palate, Long upper lip, Epiphyseal dysplasia, Cupped ribs, 11 pairs of ribs,... OMIM:271640
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... ORPHA:398124
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Elevated circulating creatinine concentration, Anemia, Pulmonary venous ... ORPHA:90060
Peutz-Jeghers Syndrome
Abnormality of the ureter, Rectal prolapse, Stomach cancer, Neoplasm of the rectum, Esophageal ne... ORPHA:2869
Familial Osteodysplasia, Anderson Type
Carious teeth, Hypertension, Bifid femur, Failure of eruption of permanent teeth, Mandibular prog... ORPHA:2769
Orofaciodigital Syndrome Type 3
Irregular dentition, Pectus excavatum, Hamartoma of tongue, Stage 5 chronic kidney disease, Bifid... ORPHA:2752
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Chronic otitis media, Finger syndactyly, Elbow dislocation, Camptodactyly o... ORPHA:1507
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Nephrocalcinosis, Submucous cleft hard palate, Renal dysplasia, Anemia, Bifid uvula... OMIM:300990
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Cleft palate, Vertebral fusion, Thin ribs, Short finger, Cleft upper lip, Joint dis... OMIM:312150
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Chronic otitis media, Hypopl... ORPHA:906
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Wormian... OMIM:166210
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Abnormal dental enamel mor... OMIM:601559
Holzgreve Syndrome
Abnormality of the ulna, Cleft palate, Aplasia/Hypoplasia of the tongue, Bifid tongue, Renal hypo... ORPHA:2167
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Micrognathia, High palate, Overtubulated long bones, Obtuse angle ... ORPHA:85184
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, Micrognathia, Pierre-Robin sequence, Alveolar rid... ORPHA:2886
Senior-Boichis Syndrome
Renal hypoplasia, Hypertension, Esophageal varix, Abnormal renal insterstitial morphology, Thicke... ORPHA:84081
Mandibuloacral Dysplasia Progeroid Syndrome
Dysplasia of the femoral head, Delayed cranial suture closure, Micrognathia, High palate, Hypodon... OMIM:619127
Lethal Congenital Contracture Syndrome 10
Micrognathia, High palate, Adducted thumb, Long philtrum, Torticollis, Hypoplasia of the thymus, ... OMIM:617022
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Hypoplasia of penis, Abnormal rib morphology ORPHA:2772
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Micrognathia, Pelvic kidney, Anemia, Hypoplasia of the radius, Short thumb, Abs... OMIM:613951
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Micropenis, Methemoglobinemia OMIM:250790
Duodenal Neuroendocrine Tumor
Right ventricular failure, Hydronephrosis, Tricuspid stenosis, Iron deficiency anemia, Palpitatio... ORPHA:100076
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Metacarpal synostosis, Cubitus valgus, Micropenis, Limited elbow extension, Unilater... ORPHA:95699
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Micrognathia, Decr... ORPHA:73230
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, Splenomegaly, Short toe, Short lon... OMIM:269860
Myhre Syndrome
2-3 toe syndactyly, Cleft palate, Skeletal muscle hypertrophy, Enlarged vertebral pedicles, Cleft... OMIM:139210
Nephronophthisis 2
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro... OMIM:602088
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Renal dysplasia, Nephritis, Pyelonephritis, Unilateral renal atrophy OMIM:314300
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Irregular chondrocostal junctions, Genu varum, Metaphyseal irregularity, S... OMIM:250420
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs, Splenomegaly, Heparan sulfate excretion in urine, ... OMIM:252920
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Allergic rhinitis, Anemia, Malabsorption, Steatorrhea, Hypoalbum... ORPHA:2070
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Elevated circulating C-reacti... ORPHA:449395
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Abnormal sternum morphology, ... ORPHA:2990
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem... ORPHA:470
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus excavatum, Pectus carinatum, Shoulder girdle muscle atrop... ORPHA:64755
Scarf Syndrome
Hypocalcification of dental enamel, Pectus carinatum, Long philtrum, Abnormal form of the vertebr... ORPHA:3134
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Splenomegaly, Fused cervical vertebrae, Neutrophilia, Osteomyelitis, Skin ra... OMIM:612852
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, Micrognathia, High palate, Pectus excavatum, Post... OMIM:311900
Cranioectodermal Dysplasia 2
Cholangitis, Cleft palate, Smooth philtrum, Short ribs, Splenomegaly, Syndactyly, Hypertension, M... OMIM:613610
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Xerostomia, Anemia, Malabsorption, Clubbing, Hypomagnesemia, Glossitis, Hypocalcemia... OMIM:175500
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Erythroderma, Infectious encephalitis, Abnormal renal physiology, Anemia, Splenomega... ORPHA:540
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Diastasis recti, H... ORPHA:96334
Ellis-Van Creveld Syndrome
Hypospadias, Hypodontia, Horizontal ribs, Capitate-hamate fusion, Abnormality of the alveolar rid... OMIM:225500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Inflammation of the large intestine, Hyperlipidemia, Tubulointerstitial fibrosis, ... ORPHA:79259
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Ankle swelling, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocyti... ORPHA:514
Antley-Bixler Syndrome
Cleft palate, Elbow ankylosis, Long philtrum, Narrow pelvis bone, Hypoplasia of the zygomatic bon... ORPHA:83
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cleft palate, Finger syndactyly, Abnormal mandible morphology, Camptodactyly of finger, Broad alv... ORPHA:2215
Lymphoproliferative Syndrome 1
Leukopenia, Stomatitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoi... OMIM:613011
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Cleft palate, Hamartoma of tongue, Neonatal death, Short ribs, Cleft lip, Micropenis, Short long ... OMIM:617925
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Renal hypoplasia, Micrognathia, High palate, Thin ribs, Phocomelia, Renal dyspla... OMIM:266910
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Horizontal ribs, Cleft palate, Postaxial polydactyly, Renal cyst, Short ribs, A... OMIM:616300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Cleft palate, 2-3 toe syndactyly, Short philtrum, Rocker bottom foot... ORPHA:163979
Neuroblastoma, Susceptibility To, 1
Hypertension, Elevated urinary vanillylmandelic acid, Anemia, Elevated urinary catecholamines, Ab... OMIM:256700
Fabry Disease
Hyperlipidemia, Transient ischemic attack, Nephropathy, Hypertrophic cardiomyopathy, Hypertension... ORPHA:324
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypospadias, Absent tibia, Torticollis, Short metatarsal, Proximal placement of thumb, Hypoplasia... OMIM:609945
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Cleft palate, Thin ribs, Vertebral fusion, Short finger, Joint dislocation, Amyopla... OMIM:253290
Johanson-Blizzard Syndrome
Hypospadias, Hypoproteinemia, Hydronephrosis, Microdontia, Oligodontia, Anemia, Malabsorption, De... ORPHA:2315
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Short distal phalanx of toe, Epiphyseal s... ORPHA:79345
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Missing ribs, Anal atresia, Multicystic kidney dysplasia, Aplasia/Hypoplasia involv... ORPHA:3301
Femoral-Facial Syndrome
Cleft palate, Smooth philtrum, Hypoplastic acetabulae, Micropenis, Thin upper lip vermilion, Shor... OMIM:134780
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Dilated cardiomyopathy, IgA deposition in the glomerulus, Decreased plasma total c... ORPHA:79408
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thumb, Abnormal rib morpholo... ORPHA:1488
Osteopathia Striata With Cranial Sclerosis
Cleft palate, Pierre-Robin sequence, Joint contracture of the hand, Camptodactyly, Micrognathia, ... OMIM:300373
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal palate morphology, Abnormality of pelvic girdle bone morphology, Abnormal rib morphology... ORPHA:1506
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, Anemia, Hyperglycinemia, Hyperammone... OMIM:251110
Cole-Carpenter Syndrome
Micrognathia, Bowing of the long bones, Abnormal form of the vertebral bodies, Abnormal dental en... ORPHA:2050
Pallister-Hall Syndrome
Cleft palate, Renal dysplasia, Neonatal death, Microglossia, Micropenis, Syndactyly, Ectopic kidn... OMIM:146510
Eiken Syndrome
Short middle phalanx of finger, Oligodontia, Pseudoepiphyses, Long hallux, Type A1 brachydactyly,... OMIM:600002
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Renal tubular acidosis, Anemia, Hyperammonemia OMIM:616457
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Midclavic... ORPHA:79076
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Mandibular prognathia, Irregular carpal bones, Ao... OMIM:252600
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Thin ribs, Penoscrotal hypospadias, Micropenis, Retrognathia, Penile hypospadias, Gl... ORPHA:456328
Cole-Carpenter Syndrome 2
Pectus excavatum, High palate, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Narrow iliac wi... OMIM:616294
Abnormality of the spleen, Abnormality of the ureter, Meckel diverticulum, Congenital hip disloca... ORPHA:1666
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Trisomy 1Q
Toe syndactyly, Hydronephrosis, Cleft palate, Congenital megaureter, Congenital diaphragmatic her... ORPHA:261344
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Broad hallux phalanx, Hypertrophic cardiomyopathy, Wide mouth, Long philtrum, Platy... ORPHA:1517
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Il... OMIM:250220
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Micrognathia, Cleft palate, Abnormal vertebral morphology, Congenital diaphragm... ORPHA:261197
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Orofaciodigital Syndrome Iii
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Kyphosis, Bifid ... OMIM:258850
Hereditary Acrokeratotic Poikiloderma
Eczema, Finger syndactyly, Camptodactyly of finger, Gingival bleeding, Open bite, Abnormal preput... ORPHA:2907
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Elevated circulating creatinine concentratio... ORPHA:29073
Van Den Ende-Gupta Syndrome
Hallux valgus, Cleft palate, Joint contracture of the hand, Long hallux, Femoral bowing, Hypoplas... OMIM:600920
Scarf Syndrome
Pectus carinatum, Long philtrum, Abnormal form of the vertebral bodies, Short sternum, Diastasis ... OMIM:312830
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Hip dy... ORPHA:30
Stormorken Syndrome
Myopathy, Asplenia, Elevated circulating creatine kinase concentration, Epistaxis, Anemia, Howell... OMIM:185070
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Short ribs, Amelogen... OMIM:610319
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Neutropenia, Methylmalonic aciduria, Anemia, Hyperglycinemia, Hyperammone... OMIM:251100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Hydronephrosis, Pectus excavatum, Macroglossia, Coat hanger sign of ribs, Pr... ORPHA:254528
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Anemia, Renal corticomedullary cysts, Stage 5 chronic ki... OMIM:613550
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Abnormal cardiac ventricular function, Supravalvular aortic stenosis, Pyeloneph... ORPHA:90349
Coffin-Lowry Syndrome
Rectal prolapse, Lumbar kyphosis, Hypodontia, High palate, Pectus carinatum, Mitral regurgitation... OMIM:303600
Achondrogenesis, Type Ia