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Gene: Zfp950 MGI:2652824

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
zinc finger protein 950
Synonyms:
Zfp826,  Gm34518,  BC029127

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
phenotypes		 Matching phenotypes Source
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... ORPHA:54057
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Rhabdomyo... OMIM:300653
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Myopathy, Aminoaciduria ORPHA:33574
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... OMIM:613845
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
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb... ORPHA:3319
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Rhabd... ORPHA:713
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... OMIM:611590
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... OMIM:274150
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... OMIM:615631
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increased circulating ... OMIM:618892
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, Leukopenia, Hypoalbumine... OMIM:617303
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Angular cheilitis, Me... ORPHA:35858
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis... ORPHA:49041
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia, Abnormality of the musculature of the limbs ORPHA:3327
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,... ORPHA:2522
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia OMIM:611490
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Craniosynostosis, Abnormal ... ORPHA:251004
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, ... OMIM:614034
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... OMIM:152700
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Hemoglobinuria, Acute col... ORPHA:90038
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum... ORPHA:182050
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... ORPHA:2614
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Spl... OMIM:224120
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... ORPHA:447
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... OMIM:300908
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... OMIM:260400
Hereditary Renal Hypouricemia
Back pain, Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild... ORPHA:94088
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... ORPHA:822
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... OMIM:194380
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of the hallux, ... ORPHA:337
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Cockayne Syndrome Type 1
Mandibular prognathia, Renal insufficiency, Proteinuria, Foot joint contracture, Delayed eruption... ORPHA:90321
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Postaxial hand polydactyly, Sh... ORPHA:474
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu... ORPHA:93552
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bow... OMIM:241500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Hyperbiliru... OMIM:235700
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Nephritis, Thrombocytopenia OMIM:274240
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... ORPHA:230
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Microcytic anemia, Short neck, Micrognathia, Short toe, Flexion contracture, Pectus ... ORPHA:98791
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow... OMIM:105650
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Anemia ORPHA:2598
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Femoral-Facial Syndrome
Short femur, Micrognathia, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, Rib ... ORPHA:1988
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Abnormal rib... ORPHA:1703
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration OMIM:619398
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum morphology... ORPHA:2345
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminem... ORPHA:99826
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... OMIM:617056
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Lateral clavicle hook, Early ossification of capital femoral epiph... OMIM:208500
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... ORPHA:2635
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
46,Xy Sex Reversal 4
Renal dysplasia, Distal symphalangism, Micrognathia, Elevated circulating creatinine concentratio... OMIM:154230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, High palate, Hypomag... OMIM:223360
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Missing ribs, Short neck, Abnormality o... ORPHA:1834
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal ... ORPHA:2790
Diamond-Blackfan Anemia 10
Macrocytic anemia, Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmatic hernia... OMIM:613309
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Congenita... ORPHA:2970
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Urethral stricture, Carious teeth, Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increa... OMIM:226670
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Neuropathic arthropathy, Elevated circulating creatinine co... OMIM:223900
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ... ORPHA:1830
Lesch-Nyhan Syndrome
Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia ORPHA:510
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Kyphoscoliosis, Acanthocytosis, Congest... ORPHA:14
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hyperlordosis, Nephrotic syndrome, Hypertension, Nephropathy, Anemia ORPHA:1192
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... ORPHA:2319
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Sandal gap, Micrognathia, Renal hypoplasia/aplasia, Splenomegal... ORPHA:1046
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hereditary Coproporphyria
Hyponatremia, Dark urine, Back pain, Proximal muscle weakness in upper limbs, Tachycardia, Abnorm... ORPHA:79273
Congenital Erythropoietic Porphyria
Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopenia, Erythroi... ORPHA:79277
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Vasculitis, Hemat... ORPHA:375
Pearson Syndrome
Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Cardiomyopathy, Hypokalemia, Hypomagnesem... ORPHA:699
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Hypos... ORPHA:2311
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Renal hypoplasia... OMIM:601389
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... OMIM:619113
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia... ORPHA:1801
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:2578
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ne... ORPHA:85450
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Axial malrotation of the kidney, Genu v... ORPHA:3320
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Thrombocytopenia, Methylmalonic aciduria... OMIM:614857
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k... OMIM:615285
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Abnormality of the kidney, Unilateral renal agenesis, Short neck... OMIM:118100
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Schimke Immunoosseous Dysplasia
Short neck, Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of the femoral he... OMIM:242900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Micrognathia, Abnormal rib morphology,... OMIM:601076
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... OMIM:253000
Melnick-Needles Syndrome
Delayed eruption of teeth, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... ORPHA:2484
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increas... ORPHA:90041
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short palm, Lumbar hy... OMIM:250250
Cartilage-Hair Hypoplasia
Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pec... ORPHA:175
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Short thumb, Cleft palate, Persistence of hemoglobin F, Mitral r... OMIM:612561
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Renal insufficiency, Hyperammonemia ORPHA:28
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Trip... ORPHA:124
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormalit... ORPHA:464329
Senior-Loken Syndrome 4
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... OMIM:203800
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hip dysplasia... ORPHA:195
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Pectus excavatum, Leukocytosis, Hepatosplenomega... OMIM:618278
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Iron deficiency anemia, High palate, Hypo... ORPHA:93315
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo... OMIM:615633
Hypophosphatasia
Bowing of the long bones, Hypercalcemia, Craniosynostosis, Abnormal rib morphology, Narrow chest,... ORPHA:436
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Kyphoscoli... ORPHA:1145
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, Neutropenia, Pa... ORPHA:289916
Frontometaphyseal Dysplasia 1
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc... OMIM:305620
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Abnormality of... ORPHA:848
Mucopolysaccharidosis, Type X
Aortic regurgitation, Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, ... OMIM:619698
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Met... ORPHA:3082
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy, Neutropenia,... ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Cardiomyopa... ORPHA:27
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Short neck, Hyper... ORPHA:582
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Short iliac bones, Metaphyseal widening, Elevated circulating cr... OMIM:614376
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Short metatarsal, Abnormal rib morph... ORPHA:93351
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Hematuria, Anemia, Hypertension, Internal hemorrhage, Thrombocytop... ORPHA:69077
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental malocclusion,... OMIM:608940
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Chronic kidney disease, Hypertension, Hip dysplasia, Gastric ulcer, Dyspla... OMIM:208060
Formiminoglutamic Aciduria
Anemia, Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine conc... ORPHA:51208
3M Syndrome
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... ORPHA:2616
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia ORPHA:100024
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Ren... ORPHA:3258
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinodactyly of the 5t... OMIM:140000
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Facial palsy, Carious teeth, Man... ORPHA:53
Hemorrhagic Fever-Renal Syndrome
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... ORPHA:340
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Muckle-Wells Syndrome
Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis, Nephrotic sy... ORPHA:575
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Dermotrichic Syndrome
Aganglionic megacolon, Aminoaciduria, Abnormal vertebral morphology, Anemia ORPHA:99688
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Thrombo... OMIM:227645
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Flexion ... ORPHA:666
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia ORPHA:2123
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Elevated circulating creatine kinase con... OMIM:619743
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Dental malocclusion, Hepatospl... ORPHA:210110
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Feingold Syndrome Type 1
Micrognathia, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicourete... ORPHA:391641
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micrognathia, Abnormality of the urethra, Abnormality of the... ORPHA:2145
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... ORPHA:958
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Subdural hem... ORPHA:169802
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Beaded ribs, Short neck, Decr... OMIM:616897
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Hypospadias, Renal agenesis, Kyphoscoliosis, Protruding tongue, Tapered fi... OMIM:301040
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me... OMIM:251000
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Chronic ot... ORPHA:276422
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Genu... ORPHA:583
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of ... OMIM:253010
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompactio... ORPHA:508542
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Hypospadias, Pectus excavatum, High, narrow palat... ORPHA:3242
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... ORPHA:2180
Kenny-Caffey Syndrome, Type 1
Short palm, Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavi... OMIM:244460
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Cleft palate, Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia,... OMIM:616738
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Paroxysmal atrial fibrillation, Down-sloping sho... ORPHA:392
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Lym... OMIM:618886
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe... OMIM:223800
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia ORPHA:2668
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus... OMIM:300946
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brachydac... ORPHA:2643
Diamond-Blackfan Anemia 5
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Thrombo... OMIM:227650
Lymphangiectasia, Intestinal
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Neo... OMIM:152800
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Igg4-Related Pachymeningitis
Low back pain, Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lo... ORPHA:449427
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Myopathy, Hydronephrosis OMIM:278300
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Thrombo... OMIM:600901
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Ketonuria, Anemia, Aminoaciduria, High palate, Neutropenia, Polymicrogyria, Thrombocy... OMIM:614520
Lead Poisoning
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Skin rash, Chronic kidney dis... ORPHA:330015
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... ORPHA:2234
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Vesicoureteral reflux... OMIM:618265
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Block ... OMIM:613686
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... OMIM:233450
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Eczema, Thrombocytopenia, Cerebellar hem... OMIM:606054
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Short neck, Microgna... ORPHA:800
Fanconi Anemia, Complementation Group R
Radial dysplasia, Absent thumb, Anemia, Scoliosis, Pelvic kidney, Anal atresia OMIM:617244
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ... ORPHA:85443
Nephronophthisis 1
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Renal Hypoplasia, Bilateral
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... ORPHA:97362
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Hypertension, Se... OMIM:617021
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morp... OMIM:274000
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Tempi Syndrome
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Polycyt... ORPHA:284227
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Abnormality of the kidney, Pneumonia, Keratitis, Abnormal... ORPHA:1163
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Abnormal metatarsal morphology, Flexion contracture, ... ORPHA:85408
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pectus carinatum, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, P... OMIM:612541
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:255125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Hypoalbuminemia... ORPHA:505248
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Ileus, He... OMIM:304790
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Osteomyelitis, Femur fracture, Facial pals... OMIM:259700
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Cle... ORPHA:96061
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Camptocormia, Facial hypotonia, Hyperkalemia... OMIM:617595
Trisomy 13
Kyphosis, High, narrow palate, Postaxial hand polydactyly, Abnormality of the ureter, Abnormal ri... ORPHA:3378
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short neck, Micrognathia, High, narrow palate, Rena... ORPHA:3015
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Hypoch... ORPHA:440713
Porphyria Variegata
Hyponatremia, Back pain, Neurogenic bladder, Proximal muscle weakness in upper limbs, Tachycardia... ORPHA:79473
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Pectus carinatum, Platyspondy... OMIM:259440
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... OMIM:268310
Vacterl/Vater Association
Finger syndactyly, Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Abnormal inter... ORPHA:887
Complement Factor I Deficiency
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... OMIM:610984
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Micropenis, Hemolytic anemia, Chilblains, Portal hypertension, Thickened glomeru... OMIM:619487
Hardikar Syndrome
Cholangitis, Vesicoureteral reflux, Bladder exstrophy, Thoracolumbar scoliosis, Cleft soft palate... OMIM:301068
Dysosteosclerosis
Micrognathia, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular vertebral e... OMIM:224300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... ORPHA:37042
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate... OMIM:200980
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... OMIM:151210
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... OMIM:607426
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Hyperuricemia, Anemia ORPHA:371
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Facial palsy, Hyperlordosis, Abnormal muscle fiber ... ORPHA:3068
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... ORPHA:2552
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Glomerulopathy, Vasculi... ORPHA:183
Hurler Syndrome
Abnormal clavicle morphology, Angina pectoris, Camptodactyly of finger, Short neck, Splenomegaly,... ORPHA:93473
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphol... ORPHA:1486
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Rocker bottom foot, Thrombocytopen... OMIM:617053
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Alagille Syndrome
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Renal hypoplasia/aplasia, Abnor... ORPHA:52
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Thin ribs, Gray matter heterotopia, Abnormal renal corticomedullary differen... OMIM:617397
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Short neck, Micrognathia, Short metatarsal, Renal cyst, High p... OMIM:266920
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ... OMIM:185070
Congenital Factor Ii Deficiency
Epistaxis, Intracranial hemorrhage, Intramuscular hematoma, Microscopic hematuria, Joint hemorrha... ORPHA:325
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Metaphyseal chondrodysplasi... ORPHA:811
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Campomelia, Cumming Type
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bones, Abnormal t... ORPHA:1318
Insulin-Resistance Syndrome Type B
Proteinuria, Pneumonia, Skin rash, Abnormal circulating fatty-acid concentration, Osteoarthritis,... ORPHA:2298
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... ORPHA:847
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Eczema, Splenomegaly... OMIM:615895
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Persistence of ... OMIM:259710
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Perisylvian polymicrogyria, Abnormal rib morphology, Abnormal vertebral m... ORPHA:280195
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Heart block, High, narrow palate, Red-brown u... ORPHA:228308
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Micrognathia, ... OMIM:613848
Orthostatic Hypotension 2
Anemia, Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Microg... ORPHA:235
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... ORPHA:73263
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelv... ORPHA:2097
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... OMIM:227646
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Short neck, High, narrow palate, Congenital diaphrag... OMIM:122470
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Listeriosis
Back pain, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Congestive heart failure, Myocarditis... ORPHA:533
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,... OMIM:230800
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Short neck, Splenomegaly, ... OMIM:611881
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Greenberg Dysplasia
Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodi... OMIM:215140
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Intestinal malrotation, M... ORPHA:3035
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Villous atrophy, Malabsorption, Thrombocytopenia, Hypercalciu... OMIM:557000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Ho... OMIM:102700
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Retrognathia, Anterior concavity of thoracic vertebrae, Micrognathia OMIM:617101
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, ... OMIM:252900
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Glossitis, Pancytopenia, Skin rash, Megaloblastic anemia, Cystathioninuri... OMIM:277380
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Fanconi Anemia, Complementation Group F
Sacral dimple, Pneumonia, Absent thumb, Thrombocytopenia, Short thumb, Hypoplasia of the radius, ... OMIM:603467
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Dilated cardiomyopath... OMIM:230500
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Short toe, Thyroiditis, Nephrotic syndrome, ... ORPHA:39041
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Micropenis, Pachygyria... OMIM:263520
Alveolar Echinococcosis
Low back pain, Abnormal pelvis bone morphology, Eosinophilia, Portal hypertension, Cholangitis, A... ORPHA:284
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia, Triphalangeal thumb OMIM:615550
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of t... ORPHA:93941
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... OMIM:220110
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuria, Aminoacidur... OMIM:239200
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Micrognathia, Kyphosis, Wide anterior fontanel, Tibial bowing, Thin ribs, Sl... OMIM:259420
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoac... ORPHA:534
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Kyphosis, Osteoarthriti... ORPHA:77259
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... OMIM:117650
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivert... ORPHA:2759
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal f... ORPHA:73230
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Centrally nucleated skeletal muscle fibers, Glandular hypospadias, Retrognathia, Thi... OMIM:300219
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Pulmonary embolism, Clubbing, Iron deficiency anemia, Club... OMIM:226300
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... ORPHA:470
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... OMIM:269860
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Esophag... ORPHA:84081
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Enthesitis, Vertebral hyper... ORPHA:89936
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Leukopenia, Cortic... ORPHA:1328
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... ORPHA:90652
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytop... ORPHA:88
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bun... ORPHA:373
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Obtuse angle of mandible, Short tubular bones of the hand, Coxa valga, Wide anterior fontanel, Mi... ORPHA:85184
Trisomy 1Q
Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of... ORPHA:261344
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Ren... ORPHA:2167
Occipital Horn Syndrome
Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca... OMIM:304150
Achondrogenesis Type 1B
Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Short foot, Narrow chest ORPHA:93298
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hypoplasia of the radi... OMIM:311900
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Abnormal rib morphology, Abnormality of neuronal migration ORPHA:2772
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... OMIM:616300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Malabsorption, Allergic rhin... ORPHA:2070
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... OMIM:271640
Myhre Syndrome
Abnormal penis morphology, Mandibular prognathia, Brachydactyly, Hypospadias, Hypoplasia of the m... ORPHA:2588
Plasminogen Deficiency, Type I
Duodenal ulcer, Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, N... OMIM:217090
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Micrognathia, Pectus excavatum,... ORPHA:2785
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, V... ORPHA:95699
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior f... OMIM:269300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Hypokalemia, Clubbing... OMIM:175500
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Torticollis, Short neck, Micrognathia, Increased variabi... OMIM:617022
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow palate, 2-3 toe cutan... OMIM:600920
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Kindler Epidermolysis Bullosa
Urethral stricture, Flexion contracture, Inflammation of the large intestine, Colitis, Conjunctiv... ORPHA:2908
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Tricuspid regurgitation, Postaxial polydactyly, Delayed clos... OMIM:618460
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... OMIM:224690
Tarp Syndrome
Finger syndactyly, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial polydactyly, Micro... ORPHA:2886
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Pectus excavatum, Postaxial hand polydactyly, Stage 5 chronic kidney disease... ORPHA:2752
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Fanconi Anemia, Complementation Group P
Pancytopenia, Absent thumb, Micrognathia, Short thumb, Hypoplasia of the radius, Horseshoe kidney... OMIM:613951
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Th... ORPHA:139402
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Abnormal cardiac ventricular function, Pyloric stenosis, Wide... ORPHA:90349
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... ORPHA:1488
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,... OMIM:275350
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Skeletal muscle atrophy, Congenital muscular torticollis, Arachnodactyly, Camp... ORPHA:2215
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Carious teet... ORPHA:2769
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal femur morphology, Atrioventricular blo... ORPHA:324
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Hip dysplasia, ... ORPHA:30
Corticosteroid-Binding Globulin Deficiency
Decreased urinary potassium, Hypertension, Hypokalemia, Hypotension, Anemia OMIM:611489
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Sy... OMIM:146510
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Abnormality of the spleen, Abno... ORPHA:1666
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... ORPHA:2050
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Incr... OMIM:252600
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Pu... OMIM:612852
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Narrow greate... OMIM:617925
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias OMIM:250790
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal renal morphology, Abnormal ri... ORPHA:83
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypoplastic spleen, Thin ribs, Slender long bone, Hypocalcemia, Micr... OMIM:602361
Scarf Syndrome
Diastasis recti, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Perineal hy... ORPHA:3134
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nephronophthisis 11
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Renal dysplasia, Short femur, Short neck, Cleft hard palate, Micrognat... OMIM:300990
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft vertebrae, Plat... OMIM:620076
Gitelman Syndrome
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... ORPHA:358
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis... ORPHA:79259
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Hypera... OMIM:251110
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... OMIM:139210
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal t... ORPHA:1120
Tyrosinemia, Type I
Hypertyrosinemia, Gastrointestinal hemorrhage, Renal insufficiency, Elevated circulating alpha-fe... OMIM:276700
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Esophagitis, Anemia, Decreased cervical spine mobility ORPHA:71272
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Congest... OMIM:181270
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Thrombocytope... ORPHA:163979
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... OMIM:277900
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Abnormality of the kidney, Sagittal craniosynostosis, Micrognathia, Small hand, Cleft palate, Tub... ORPHA:459061
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... OMIM:258850
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Missing ribs, Micrognathia, Abnormal... ORPHA:3301
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... ORPHA:247598
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Th... OMIM:251100
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Sandal gap, Decreased fibular diamete... OMIM:619127
Castleman Disease
Renal insufficiency, Intestinal obstruction, Elevated circulating C-reactive protein concentratio... ORPHA:160
Rat-Bite Fever
Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymph... ORPHA:31205
Arima Syndrome
Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea... OMIM:243910
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Short neck, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, ... ORPHA:96334
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Esophageal atresia, Abse... OMIM:614083
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hypolysinemia, Increased circulating ferritin concentration, Thrombocyto... OMIM:222700
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas... OMIM:134780
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Persistence of primary teeth, Recurrent pneumonia, Hiatus hernia OMIM:619769
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal i... ORPHA:91500
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Orot... OMIM:616457
Scarf Syndrome
Barrel-shaped chest, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Perineal... OMIM:312830
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... OMIM:616629
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Anemia, ... OMIM:617591
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, U... ORPHA:79408
Fryns Syndrome
Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Prominent fingertip pa... OMIM:229850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pul... OMIM:619351
Cranioectodermal Dysplasia 1
High, narrow palate, Tubulointerstitial nephritis, High palate, Narrow chest, Hypocalcemia, Sagit... OMIM:218330
Blau Syndrome
Xerostomia, Large vessel vasculitis, Posterior uveitis, Nephropathy, Abnormal salivary gland morp... ORPHA:90340
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Genu recurvatum, Unilateral renal agenesis, Congestive heart failure, Hip d... ORPHA:90348
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Broad ribs,... OMIM:269150
Cranioectodermal Dysplasia 2
Cholangitis, Short neck, Micrognathia, Renal cyst, High palate, Narrow chest, Syndactyly, Short r... OMIM:613610
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Epispadias, Capitate-hamate fusion, Postaxia... OMIM:225500
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Mi... ORPHA:818
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Pectus carinatum, Vertebral s... OMIM:312870
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Anteriorly pla... ORPHA:798
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... OMIM:610682
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal st... ORPHA:2519
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227990
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Delayed closure... OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Apla... OMIM:276820
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E... ORPHA:2554
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... OMIM:300106
Brucellosis
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukopenia, Infectiou... ORPHA:1304
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... OMIM:610915
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Proteinuria, Sagittal craniosynostosis, Micrognathia, Hematuria, Tubulointerstitial ... OMIM:616901
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... ORPHA:79404
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Bowing of the long bones, Craniosynostosis, Splenomegaly, Abnormal rib... ORPHA:667
Von Hippel-Lindau Disease
Back pain, Elevated urinary catecholamine level, Myocardial infarction, Myocarditis, Upper limb m... ORPHA:892
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Limb hypertonia ORPHA:423479
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227982
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Patent urachus, Triphalangeal ... OMIM:192350
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Nonketotic ... ORPHA:1300
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Dental malocclusion, Diaphyseal sclerosis, Hepatosplenomegaly, Dist... OMIM:259730
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Eczema, Abnormal preputiu... ORPHA:2907
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Pectus excavatum, Kyphosis, Flexion contracture, Abnormal form of the vertebral ... ORPHA:3042
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka... OMIM:174900
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... ORPHA:71273
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Malabsorption, Heparan sulfate excretion in urine, Splenomegaly, Av... ORPHA:581
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Long clavicles, Arachnodactyly, Overlapping toe, Micrognathia, Superfic... ORPHA:83617
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... ORPHA:1647
Pagod Syndrome
Abnormal clavicle morphology, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Rena... ORPHA:991
Camptodactyly Syndrome, Guadalajara Type 3
Sternocleidomastoid amyotrophy, Short neck, Abnormal rib morphology, Small hand, Retrognathia, Sh... ORPHA:488434
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin... ORPHA:797
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradia... ORPHA:3404
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Monosomy 9P
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Congenital... ORPHA:261112
Trisomy 18
Microretrognathia, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of the u... ORPHA:3380
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... ORPHA:2036
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Cleft... ORPHA:33001
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Leiomyosarcoma, Ves... ORPHA:116
Alagille Syndrome 1
Duplicated collecting system, Hypoplasia of the ulna, Hypertriglyceridemia, Multiple small medull... OMIM:118450
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Micrognathia, Rib fusio... ORPHA:263508
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Supernumerary tooth, Horseshoe k... OMIM:617088
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... OMIM:218600
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis, Nephrotic syndrom... ORPHA:488627
Digeorge Syndrome
Micrognathia, High, narrow palate, Hypoplasia of the thymus, Hypocalcemia, High palate, Bifid uvu... OMIM:188400
Monosomy 9Q22.3
Delayed eruption of teeth, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib... ORPHA:77301
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis, Hypertrophic cardiomyopathy OMIM:614582
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,... ORPHA:1467
Townes-Brocks Syndrome
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of... ORPHA:857
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... ORPHA:2968
Charge Syndrome
Micrognathia, Hemivertebrae, Hand monodactyly, Hypocalcemia, Micropenis, Hypoplasia of the ulna, ... OMIM:214800
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... OMIM:615709
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Charge Syndrome
Delayed eruption of teeth, Facial palsy, Abnormal soft palate morphology, Abnormal tibia morpholo... ORPHA:138
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Craniorachischisis
Congenital diaphragmatic hernia, Bifid sternum, Anal atresia ORPHA:63260
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Thyroiditis, Enlargement of parotid gland, Tubulointerstitial nephritis, Ab... ORPHA:79078
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria, Tubuloin... OMIM:124000

Histopathology

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

There is no histopathology data for Zfp950

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp950.

No publications found that use IMPC mice or data for Zfp950.

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