Not currently registered for phenotyping at IMPC

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

Gene Summary

mannoside acetylglucosaminyltransferase 2

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 Mgat2 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.

The table below shows human diseases associated to Mgat2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Mgat2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, High palate, Abnormal peripheral nervous system synaptic tr... ORPHA:353327
Refractory Celiac Disease
Jejunitis, Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Villous atrophy, Iron deficienc... ORPHA:398063
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Nephrotic Syndrome, Type 7
Hemolytic anemia, Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, ... OMIM:615008
Ménétrier Disease
Hypoproteinemia, Anorexia, Stomach cancer, Hypochromic microcytic anemia, Abnormal gastric mucosa... ORPHA:2494
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Ne... OMIM:617006
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Babinski sign, Dysphagia, Upper limb amyotrophy, Lower limb amyotrophy, Kyphoscoliosis, Lower lim... ORPHA:496689
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Solitary Rectal Ulcer Syndrome
Bloody diarrhea, Rectal prolapse, Tenesmus, Bloody mucoid diarrhea, Stercoral ulcer, Anemia, Inte... ORPHA:209964
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Arthritis, Acute kidney ... ORPHA:567544
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Nausea and vomiting, Lethargy, Gingival bleeding, Petechiae... ORPHA:99828
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Skin rash, P... OMIM:105200
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Fechtner syndrome
Menorrhagia, Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage... OMIM:153640
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Wild Type Abeta2M Amyloidosis
Dysphagia, Bone cyst, Abnormal intestine morphology, Abnormal intervertebral disk morphology, Abn... ORPHA:85446
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Hypoalbum... OMIM:600351
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Frequent falls, Facial diplegia, Achilles tendon contracture, Kyphoscoliosis... ORPHA:370980
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Prot... OMIM:608709
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Lymphopenia, Plasmacytosis, Glomerulonephritis, Autoimmune hemolytic anemia OMIM:247800
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Ataxia, Intrauterine growth retardation, Anemia, Scoliosis ORPHA:2802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Falls, Spinal rigidity, Flexion contracture, ... OMIM:615883
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Gingival bleeding, Post-partum hemorrhag... ORPHA:98870
Nemaline Myopathy 4
Feeding difficulties in infancy, High palate, Skeletal muscle atrophy, Limb muscle weakness, Faci... OMIM:609285
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
Young Syndrome
Obstructive azoospermia, Abnormality of the pancreas, Decreased fertility ORPHA:3471
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Neoplasm of the rectum, Esophageal... ORPHA:2869
Roussy-Lévy Syndrome
Clumsiness, Postural tremor, Babinski sign, Skeletal muscle atrophy, Frequent falls, Kyphoscolios... ORPHA:3115
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Dystonia, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, ... ORPHA:71277
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Abnormal intestine morphology, Hypoproteinemia, Vomiting, Budd-Chiari syndrome, I... OMIM:226300
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Lymphangiectasia, Intestinal
Stillbirth, Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Porphyria, Acute Hepatic
Paralysis, Vomiting, Respiratory paralysis, Abdominal colic, Hemolytic anemia OMIM:612740
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia, Reticulocytosis OMIM:612126
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Dystonia, Intrauterine growth retardation, Esophageal varix, Osteopenia, Retinal telangiectasia, ... OMIM:617341
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Dysphagia, Myopathy, Feeding difficulties in infancy, Type 2 muscle fiber ... OMIM:603034
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Ret... OMIM:613673
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Spastic Paraplegia 20, Autosomal Recessive
Babinski sign, Knee clonus, Upper limb spasticity, Distal amyotrophy, Dysmetria, Hyperextensible ... OMIM:275900
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture, Foot dorsiflexor weakness, Kyphoscoliosis OMIM:616668
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hemiplegia, Leukopenia, Prolonged prothrombin time, Anemia, Increa... OMIM:603553
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paralysis, Vocal cord paresis, Tremor, Distal amyotrophy, Difficulty walking OMIM:158580
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Feeding difficulties in infancy, Hypoglycemia, Myoclonus, Anemia, Hypertonia, Unsteady gait OMIM:610090
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Anemia, Malabsorption, Splenomegaly, Hypocalcemia, Abdominal ... ORPHA:100025
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Myopathy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Kyphoscoli... ORPHA:300179
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility, Nephrolithiasis OMIM:301060
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Unconjugated hyperbilirubinemia, Intussusception, Colonic stenosis, Diarrhea, Ab... ORPHA:90038
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Multiple gastric polyps, Anemia, Intussusc... OMIM:174900
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... OMIM:231200
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Malabsorption, Hypocalcemia, Reduced bone mineral density ORPHA:172
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia, Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia ORPHA:33574
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Arthritis, Spl... OMIM:602390
Snakebite Envenomation
Paralysis, Hyponatremia, Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Pseudobulbar par... ORPHA:449285
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Hypokalemia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, H... OMIM:175500
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Dysphagia, Ragged-red muscle fibers, Gait disturbance, E... ORPHA:276435
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Osteopetrosis, Autosomal Recessive 4
Petechiae, Osteopetrosis, Anemia, Facial palsy, Splenomegaly, Hepatosplenomegaly, Reticulocytosis... OMIM:611490
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the ... ORPHA:90362
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Acute Peripheral Arterial Occlusion
Paralysis, Leukocytosis, Limb muscle weakness, Supraventricular tachycardia, Absent ankle pulse, ... ORPHA:90064
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Hypokalemia, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular v... OMIM:611590
Developmental And Epileptic Encephalopathy 41
Feeding difficulties, Kyphoscoliosis, Inability to walk, Spasticity, Flexion contracture, Lethargy OMIM:617105
Acquired Partial Lipodystrophy
Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria ORPHA:79087
Lymphatic Filariasis
Lymphangiectasis, No social interaction, Vaginal hydrocele, Nephrotic syndrome, Lymphadenopathy, ... ORPHA:2035
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Hypoketotic hypoglycemia, Prolonged QT interval, Vomitin... ORPHA:26793
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic... ORPHA:54370
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Intrauterine growth retardation, Dysmetria, Osteoporosis, Acute rhabdomyolysis, Abn... ORPHA:48431
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Menorrhagia, Gingival bleeding, Epist... OMIM:173470
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Osteopetrosis, Craniosynostosis, Anemia, Facial palsy, C... OMIM:259700
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Anemia, M... ORPHA:79076
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613913
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Hypoproteinemia, Malabsorption, Lymphopenia ORPHA:1116
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hand tremor, Hyperinsulinemic hypoglycemia, ... ORPHA:79299
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Pathologic fracture, Intussusception, Intestin... OMIM:112200
Osteopetrosis, Autosomal Recessive 5
Clonus, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Spas... OMIM:259720
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Difficulty walking, Fatigable weakness, Frequent falls OMIM:616227
Prolonged prothrombin time, Hypotriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentra... ORPHA:14
Glut1 Deficiency Syndrome 1
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... OMIM:606777
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Inability to walk, Kyphoscoliosis, Flexion contracture OMIM:617977
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Kyphoscoliosis, Distal amyotrophy OMIM:619099
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myopathy, Decreased hemoglobin concentration, Hyperbilirubinemia, Rhabdomyolysis, Tremor, Ataxia,... ORPHA:713
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Celiac disease, Rickets, Iron deficiency anemia, Prolonged pro... OMIM:212750
Severe Hemophilia A
Limb joint contracture, Menorrhagia, Epidural hemorrhage, Synovitis, Intracranial hemorrhage, Sub... ORPHA:169802
Flynn-Aird Syndrome
Increased bone density with cystic changes, Kyphoscoliosis, Osteoporosis, Ataxia, Increased bone ... OMIM:136300
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Skeletal muscle atrophy, Contractures of the joints of the lower limbs, Difficulty wal... OMIM:613710
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Babinski sign, Dystonia, High palate, Choreoathetosis, Spastic gait, Kyphoscoliosis, Facial hypot... OMIM:300055
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Myopathic Ehlers-Danlos Syndrome
Joint contracture of the hand, Elbow flexion contracture, Contractures involving the joints of th... ORPHA:536516
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Dysphagia, High palate, Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex conge... OMIM:608930
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Fatigable weakness, G... OMIM:254210
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Reticulocyt... ORPHA:54057
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Neuronopathy, Distal Hereditary Motor, Type Iib
Paralysis, Distal lower limb muscle weakness, Difficulty walking OMIM:608634
Leukodystrophy, Hypomyelinating, 3
Kyphoscoliosis, Projectile vomiting, Arthrogryposis multiplex congenita, Abnormal pyramidal sign,... OMIM:260600
Lethal Congenital Contracture Syndrome 7
Paralysis, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita, Knee fle... OMIM:616286
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
C3 Glomerulopathy
Nephrotic syndrome, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellularity, Acute ... ORPHA:329918
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ataxia, Splenomegaly ORPHA:2274
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Neutropenia, Increased mean corpuscular volume, Intrauterine gro... OMIM:612562
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hematu... OMIM:614034
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Skeletal muscle atrophy, Tremor, Ataxia, Spasticity, Flexion contracture OMIM:611105
Foxg1 Syndrome
Dystonia, Choreoathetosis, Feeding difficulties, Kyphoscoliosis, Myoclonus, Stereotypy, Inability... ORPHA:561854
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Splenomegaly, Increased circulating ferritin concentrati... ORPHA:167
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Dysphagia, Myopathy, Feeding difficulties in infancy, Type 2 muscle fiber atrophy, Limb muscle we... OMIM:605809
Myasthenic Syndrome, Congenital, 14
Ragged-red muscle fibers, High palate, Mildly elevated creatine kinase, Fatigable weakness, Waddl... OMIM:616228
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Anemia, Arthritis, Facial palsy, Osteomyelitis, Mandibular osteomyeli... ORPHA:53
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Galloway-Mowat Syndrome 8
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Protein... OMIM:618349
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Episodic hypokalemia, Increased intramyocellular lip... ORPHA:681
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis OMIM:613779
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Feeding difficulties in infancy, Elevated circulating creatine kinase concentration, Kyphoscolios... OMIM:607855
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepatocellular carcinom... ORPHA:247585
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... ORPHA:424019
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Abdominal distention, Increased total bilirubin, Back pain, Gast... ORPHA:2924
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Osteoporosis, Thrombocytopeni... OMIM:614727
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... OMIM:314050
Classic Galactosemia
Clumsiness, Postural tremor, Gait disturbance, Dystonia, Hypoglycemia, Gait imbalance, Vomiting, ... ORPHA:79239
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis, Fasciculations OMIM:271200
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... ORPHA:849
Johanson-Blizzard Syndrome
Hypoproteinemia, Intrauterine growth retardation, Anemia, Malabsorption, Anal atresia, Diabetes m... ORPHA:2315
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, High, narrow palate, Atlantoaxial abnormality, Kyphoscoliosis, Shuffling g... ORPHA:3433
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Esophageal neoplasm, Abnormal larg... ORPHA:2198
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Anterior uveitis, Panuveitis, Uveitis, Glomerulonephritis, Non-caseatin... OMIM:607665
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Neutro... OMIM:619644
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Arthrogryposis multiplex congenita, Spasticity OMIM:212540
Colorectal polyposis, Hypertension, Functional intestinal obstruction, Abnormal bone structure, E... ORPHA:251992
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Abnormal bleeding, Lymphopenia OMIM:207731
Maternal Uniparental Disomy Of Chromosome 9
Elbow ankylosis, Intrauterine growth retardation, Abnormal vertebral morphology, Hamstring contra... ORPHA:96183
Hyperekplexia 4
Distal arthrogryposis, High palate, Kyphoscoliosis, Myoclonus, Hypertonia, Flexion contracture, C... OMIM:618011
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fasciculations, Trem... OMIM:615048
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Myoclonic spasms, Prolonged QT interval, Hypocalcemic seizures, Abdominal sy... ORPHA:94090
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Gait disturbance, Irregula... OMIM:271630
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Interphalangeal joint contracture of finger, Ankle flexion contracture, Hi... ORPHA:1145
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Myopathy, Spheroid Body
Proximal amyotrophy, Dysphagia, Myopathy, Skeletal muscle atrophy, Elevated circulating creatine ... OMIM:182920
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Gait ataxia, Nephropathy, Glomerulopathy,... OMIM:254900
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Brown-Vialetto-Van Laere Syndrome 2
Clumsiness, Dysphagia, Limb muscle weakness, Kyphoscoliosis, Generalized amyotrophy, Facial palsy... OMIM:614707
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Myoclonic spasms, Prolonged QT i... ORPHA:94089
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... OMIM:210250
Aggressive Systemic Mastocytosis
Neutropenia, Leukemia, Pathologic fracture, Hepatosplenomegaly, Hypersplenism, Gastrointestinal h... ORPHA:98850
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Dysphagia, Generalized bone demineralization, Skeletal muscle hypertrophy,... ORPHA:3101
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Gas... OMIM:273800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Malabsorption, Splenomegaly, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:79301
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Gait disturbance, Rigidity, Pseudobulbar paralysis, Kyphoscoliosis, Spastic ataxia, Abnormal pyra... ORPHA:199354
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Dysmetria, Glomerular sclerosis, Stage 5 c... OMIM:301006
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Action tremor, Distal amyotrophy, Upper limb postural tremor, Gait ataxia OMIM:180800
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Ataxia, Reticulocytosis, Hemolytic anemia OMIM:300653
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate... ORPHA:85450
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Myoclonic spasms, Prolonged QT interval, Hypocalcemic seizures, Ventricular ... ORPHA:36913
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Dysphagia, Triceps weakness, Kyphoscoliosis, Fasciculations, Vocal cord paresis, Tremor, Impaired... OMIM:619574
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Incr... OMIM:603903
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Rhabdoid Tumor
Hypercalcemia, Hypertension, Nausea and vomiting, Cerebral palsy, Anemia, Neoplasm of the liver, ... ORPHA:69077
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Skeletal muscle atrophy, Mildly elevated creatine kinase, Distal amyotrophy OMIM:614369
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Dysphagia, Limb fasciculations, Elevated circulatin... ORPHA:90117
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... OMIM:277410
Cryofibrinogenemia, Familial Primary
Transient nephrotic syndrome, Hematuria OMIM:123540
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Whipple Disease
Myocarditis, Hyponatremia, Anorexia, Pericarditis, Insulin resistance, Myositis, Myoclonus, Anemi... ORPHA:3452
Glycogen Storage Disease Vii
Gout, Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosph... OMIM:232800
Epistaxis, Splenomegaly, Tremor, Ataxia, Gastrointestinal hemorrhage, Hypertonia, Cardiac arrest,... ORPHA:99745
Vomiting, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration... OMIM:618892
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypogonad... OMIM:617575
Rhizomelic Chondrodysplasia Punctata, Type 1
Cleft palate, Coronal cleft vertebrae, Epiphyseal stippling, Kyphoscoliosis, Calcific stippling o... OMIM:215100
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia OMIM:613909
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Hematuria, Arthritis, Splenomegaly, Ataxia,... ORPHA:36412
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Scoliosis, Difficulty walking OMIM:605285
Neuroleptic Malignant Syndrome
Hypernatremia, Extrapyramidal muscular rigidity, Pulmonary embolism, Oculogyric crisis, Hyperphos... ORPHA:94093
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Lymphadenopathy, Hematuria, Hep... ORPHA:549
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Rigidity, Osteopetrosis, Platyspondyly, Spastic tetraplegia, Kyphosis, Ataxia, Spasticity, Hypoca... OMIM:618476
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Nephrotic syndrome, Glomerular sclerosis, Poor eye contact, Ataxia, No social intera... OMIM:619428
Shwachman-Diamond Syndrome
Neutropenia, Leukemia, Steatorrhea, Diabetes mellitus, Pancytopenia, Malnutrition, Osteomyelitis,... ORPHA:811
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Sple... ORPHA:91138
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Fasting hypoglycemia, Abnormal circulating selenium conc... ORPHA:171706
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Hypertonia, Flexion contracture OMIM:608093
Central Core Disease
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Abnormal circulating creati... ORPHA:597
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hepatic steatosis, Infertility, Azoospermia OMIM:615703
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, High palate, Skeletal muscle atrophy, Weakness of the intrinsic hand mus... ORPHA:98913
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Choreoathetosis, Feeding difficulties, Kyphoscoliosis, Inability to walk, Spasticity, F... OMIM:617664
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Hereditary Spherocytosis
Abdominal distention, Restrictive cardiomyopathy, Gout, Anemia, Hyperbilirubinemia, Splenomegaly,... ORPHA:822
Fibronectin Glomerulopathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Glomerulopat... ORPHA:84090
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary system, Lymphad... ORPHA:93552
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating threonine concentration, Feeding difficulties, Myoclonus, Hypo... ORPHA:79096
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Distal amyotrophy, Limb ataxia, Gait ataxia OMIM:617018
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Frasier Syndrome
Ovarian gonadoblastoma, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic k... OMIM:136680
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Focal segmental glomerulosclerosis, Nephrotic sy... ORPHA:347
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Cleft palate, High palate, Hip contracture, Coronal cleft vertebrae, Irregular vertebral endplate... OMIM:618363
Propionic Acidemia
Lethargy, Dystonia, Feeding difficulties in infancy, Neutropenia, Limb hypertonia, Hypoglycemia, ... OMIM:606054
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness OMIM:616583
Diamond-Blackfan Anemia 6
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Mitral regurgitation, Bifid u... OMIM:612561
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Spasticity OMIM:240800
Mitochondrial Trifunctional Protein Deficiency
Babinski sign, Feeding difficulties in infancy, Hypoketotic hypoglycemia, Mitral regurgitation, F... ORPHA:746
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Trypsinogen Deficiency
Hypoproteinemia, Anal atresia OMIM:614044
Variegate Porphyria
Paralysis, Vomiting, Tachycardia, Abdominal pain, Constipation OMIM:176200
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Morphological abnormality of the gastrointestinal tract, Melena, Muscle hemorrha... ORPHA:464321
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... OMIM:616892
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabet... ORPHA:324575
Familial Pseudohyperkalemia
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... ORPHA:90044
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Nephrotic syndrome, Nephrocalcinosis, Renal dysplasia,... OMIM:146255
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
X-Linked Agammaglobulinemia
Neutropenia, Anemia, Arthritis, Glossoptosis, Osteomyelitis, Malabsorption, Chronic diarrhea, Hyp... ORPHA:47
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Shashi-Pena Syndrome
Feeding difficulties in infancy, Hypoglycemia, Osteoporosis, Kyphosis, Scoliosis OMIM:617190
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Bone cyst, Abnormal form of the vertebral bodies, Hypophosphatemia, Abnormal bo... ORPHA:93160
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Vomiting, Abnormal hemogl... ORPHA:35858
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Normocytic anemia, Mitral regurgitation, Prolonged prothrom... ORPHA:99147
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Upper limb amyotrophy, Kyphoscoliosis, Inability to walk, Unsteady gait, Distal ... ORPHA:99950
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Hypoglycemia, Skeletal muscle atrophy, Vomiting, Elevated circul... ORPHA:42
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Marburg Hemorrhagic Fever
Hypoglycemia, Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin time, Odyno... ORPHA:99826
You-Hoover-Fong Syndrome
Ataxia, Kyphoscoliosis, Spasticity OMIM:616954
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, Decreased glomer... ORPHA:730
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... OMIM:137560
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Upper motor neuron dysfunction, Skeletal muscle atrophy, Flexion contracture OMIM:612079
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... OMIM:618999
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Abdominal distention, Hypoalbuminemia, Gastroe... OMIM:256300
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly... OMIM:619164
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Myopathy, Intrauterine growth retardation, Feeding difficulties, Cardiomyopathy, Ketoti... ORPHA:26792
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Hand muscle weakness, Triceps weakness, Frequent falls, Steppage ... ORPHA:99947
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Kyphoscoliosis, Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting t... ORPHA:3077
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abdominal pain, Vomiting ORPHA:314811
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Dysphagia, High palate, Type 2 muscle fiber atrophy, Feeding difficulties, Fatigable weakness, Pr... OMIM:601462
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis, Distal lower limb muscle weakness OMIM:158590
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Kyphoscoliosis, Stereotypy OMIM:615541
Proteus Syndrome
Mandibular hyperostosis, Spinal canal stenosis, Thin bony cortex, Kyphoscoliosis, Splenomegaly, C... OMIM:176920
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemiparesis OMIM:106070
Diastrophic Dysplasia
Costal cartilage calcification, Cleft palate, Hip contracture, Kyphoscoliosis, Cervical kyphosis,... OMIM:222600
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Periodic hypokalemic paresis, Periodic paralysis, Hypocalcemia, Osteomalacia OMIM:179800
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism OMIM:261550
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia,... OMIM:612526
Juvenile Polyposis Syndrome
Spontaneous, recurrent epistaxis, Neoplasm of the small intestine, Intussusception, Gastrointesti... ORPHA:2929
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Feeding difficulties in infancy, Hypoglycemia, Vomiting, Diarrhea,... OMIM:606528
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Microscopic hematuria OMIM:237000
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia, Osteopenia OMIM:619073
Leukodystrophy, Hypomyelinating, 17
Feeding difficulties, Kyphoscoliosis, Inability to walk, Flexion contracture OMIM:618006
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Steppage gait, Kyphoscoliosis, Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor we... OMIM:605588
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, High palate, Lumbar kyphosis in infancy, Dysmetria, Hand tremor, Feeding d... ORPHA:3041
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Cednik Syndrome
Hypogonadism, Ataxia, Proteinuria, Nephrotic syndrome ORPHA:66631
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Nausea and vomiting, Anorexia, Cerebral palsy, Vocal cord paresis, Sudden cardiac death, Attentio... ORPHA:770
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Hyperlipidemia, Prolonged prothrombin ti... ORPHA:35909
Enterokinase Deficiency
Hypoproteinemia, Diarrhea OMIM:226200
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Childhood-Onset Nemaline Myopathy
Clumsiness, Generalized limb muscle atrophy, Fatigable weakness of bulbar muscles, High palate, A... ORPHA:171439
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Spinocerebellar Ataxia 37
Dysphagia, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Ataxia, Hypoglycemia OMIM:616113
Congenital Factor V Deficiency
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... ORPHA:326
Hypophosphatasia, Infantile
Decreased calvarial ossification, Hypercalcemia, Intracranial hemorrhage, Anorexia, Vomiting, Inc... OMIM:241500
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Hepatocellular carcinoma, E... ORPHA:231222
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, High palate, Cleft palate, Abdominal distention, Splenomegaly, Hepatic failure, ... OMIM:235255
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Recurrent aphth... ORPHA:3261
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Myelofibrosis, Epistaxis, Absence of alpha granules, Gastrointestinal hemo... OMIM:187900
Synaptic Congenital Myasthenic Syndromes
Dysphagia, High palate, Hand muscle weakness, Myopathy, Skeletal muscle atrophy, Frequent falls, ... ORPHA:98915
Pleoconial Myopathy With Salt Craving
Paralysis, Proximal amyotrophy, Myopathy OMIM:262900
Charcot-Marie-Tooth Disease Type 1A
Gait disturbance, Skeletal muscle atrophy, Gait imbalance, Kyphoscoliosis, Calf muscle hypertrophy ORPHA:101081
Renal Nutcracker Syndrome
Infertility, Dysmenorrhea, Vulval varicose vein, Hematuria, Anemia, Dyspareunia, Varicocele, Micr... ORPHA:71273
King-Denborough Syndrome
High palate, Minicore myopathy, Weakness of facial musculature, Elevated circulating creatine kin... OMIM:619542
Glycerol Kinase Deficiency
Myopathy, Hypoglycemia, Osteoporosis, Pathologic fracture, Muscular dystrophy, Hypertriglyceridem... OMIM:307030
Fetal And Neonatal Alloimmune Thrombocytopenia
Ecchymosis, Intracranial hemorrhage, Petechiae, Cerebral palsy, Melena, Spontaneous hematomas, Ce... ORPHA:853
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Renal dysplasia, Bicornuate uterus... ORPHA:2578
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Decreased prealbumin level, Neutropenia, Neutropenia in presence o... ORPHA:37042
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Vom... ORPHA:324636
Lesch-Nyhan Syndrome
Anemia, Hematuria, Renal insufficiency, Gout ORPHA:510
Kenny-Caffey Syndrome, Type 1
Intrauterine growth retardation, Anemia, Calvarial osteosclerosis, Hypomagnesemia, Decreased skul... OMIM:244460
Hepatoportal Sclerosis
Esophageal varix, Leukopenia, Hepatocellular carcinoma, Prolonged prothrombin time, Anemia, Hyper... ORPHA:64743
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Viral infection-induced rhabdom... ORPHA:99845
Oculopharyngodistal Myopathy
High, narrow palate, High palate, Fatigable weakness of bulbar muscles, Abnormality of facial mus... ORPHA:98897
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Osteomalacia ORPHA:89937
Dubowitz Syndrome
Acute lymphoblastic leukemia, Rectal prolapse, High palate, Intrauterine growth retardation, Cran... ORPHA:235
Inflammatory abnormality of the skin, Prostate neoplasm, Urinary bladder inflammation, Urinary ur... ORPHA:556
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Decreased skull ossification,... ORPHA:3319
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Rectal prolapse, Joint contracture of the hand, Intestinal lymphangiectasia, Nar... OMIM:235510
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Intrauterine growth retardation,... ORPHA:93324
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Gait disturbance, Hand muscle weakness, Distal upper lim... ORPHA:101077
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, High palate, Spastic paraplegia OMIM:309560
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Myh9-Related Disease
Menorrhagia, Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platel... ORPHA:182050
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Vocal cord paralysis, Facial palsy, Distal amyotrophy, Lower limb muscle we... OMIM:607641
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Dysphagia, Dystonia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spas... ORPHA:251282
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Ascites, Hyp... OMIM:235200
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Inflammatory... ORPHA:449395
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Hematuria, Anemia, Metrorrhag... ORPHA:520
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... ORPHA:77297
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dystonia, Dysphagia, Kyphoscoliosis, Tetraparesis OMIM:618230
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Igg4-Related Retroperitoneal Fibrosis
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Normoc... ORPHA:49041
Episodic Ataxia Type 1
Clumsiness, Poor coordination, Nausea, Choreoathetosis, Kyphoscoliosis, Hypertonia, Tip-toe gait,... ORPHA:37612
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Progressive distal muscular atrophy, Kyphoscoliosis, Oculomotor apraxia, Muscular dystr... ORPHA:459033
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circula... OMIM:235400
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Imerslund-Grasbeck Syndrome 1
Paresthesia, Proteinuria, Megaloblastic anemia, Somatic sensory dysfunction OMIM:261100
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iron concentratio... OMIM:616860
Moderate Hemophilia A
Intracranial hemorrhage, Epidural hemorrhage, Synovitis, Hip contracture, Subdural hemorrhage, Gi... ORPHA:169805
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Tremor by anatomical site, Rigidity, Kyphoscoliosis, Falls, Bradykinesia, Extrapyra... ORPHA:99750
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Bacterial Toxic-Shock Syndrome
Myocarditis, Septic arthritis, Diarrhea, Abdominal pain, Capillary leak, Ecchymosis, Increased ci... ORPHA:36234
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... OMIM:616730
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Neutropenia, Erythroderma, Lymphadenopathy, Coombs-positive hemolytic anemi... OMIM:304790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Blue Rubber Bleb Nevus
Gastrointestinal infarctions, Volvulus, Microcytic anemia, Prolonged bleeding time, Intestinal bl... ORPHA:1059
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis, Cleft palate, Gastroesophageal reflux OMIM:612913
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Distal amyotrophy, Gait... OMIM:606183
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Hand muscle weakness, Weakness of facial musculature, Frequent fal... ORPHA:99948
Peutz-Jeghers Syndrome
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Intussusception, Intestinal ... OMIM:175200
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding ORPHA:98881
Primary Dystonia, Dyt4 Type
Involuntary movements, Gait disturbance, Dysphagia, Torticollis, Kyphoscoliosis, Laryngeal dyston... ORPHA:98805
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stage 5 chronic kidne... OMIM:619155
Desmoid Tumor
Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal po... ORPHA:873
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Osteoporosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, ... OMIM:214150
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Intrauterine growth retardation, Abnormal vertebral morphology, Kyphoscoliosis, R... OMIM:616817
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Skeletal muscle atrophy, Kyphoscoliosis, Ataxia, Difficulty walking OMIM:616684
Hemophilia A
Splenic rupture, Intracranial hemorrhage, Joint hemorrhage, Spontaneous hematomas, Bleeding with ... ORPHA:98878
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Epistaxis, Leukocyte inclusion bodies, Myocardial infar... OMIM:155100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia, Hypertriglyceridemia ORPHA:366
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Polycystic ovaries, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney d... ORPHA:275555
Ck Syndrome
High palate, Kyphoscoliosis, Joint hypermobility, Hyperactivity, Lumbar hyperlordosis ORPHA:251383
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis, Joint laxity OMIM:236660
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Dysphagia, High palate, Increased mean corpuscular volume, Mitral regurgi... ORPHA:261250
Burkitt Lymphoma
Abnormality of the spleen, Nausea and vomiting, Hyperuricemia, Intestinal obstruction, Gastrointe... ORPHA:543
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, High palate, Kyphoscoliosis, Microglossia, Knee flexion contracture... OMIM:277720
Butyrylcholinesterase Deficiency
Paralysis, Myocardial infarction, Congestive heart failure ORPHA:132
Coffin-Siris Syndrome 6
High, narrow palate, Cleft palate, Kyphoscoliosis, Stereotypy, Tics, Diaphragmatic eventration, A... OMIM:617808
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... ORPHA:1830
Young Syndrome
Bronchiectasis, Azoospermia OMIM:279000
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormal lumbar spine morphology, Increased bone mineral density, Premature ... ORPHA:93284
Familial Colorectal Cancer Type X
Nausea and vomiting, Abnormal circulating creatine concentration, Gait disturbance, Neoplasm of t... ORPHA:440437
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Dystonia, Hypoglycemia, Feeding difficulties, Hyperalaninemia, Spast... OMIM:614702
Idiopathic Camptocormia
Dystonia, Spinal canal stenosis, Abnormal intervertebral disk morphology, Myositis, Elevated circ... ORPHA:1320
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Hyperisoleucinemia, Hypoglycemia, Vomiting, Feeding diffic... ORPHA:2394
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Elevated circulating follicle stimulating hormone level, Urogenital sinus anomaly, M... ORPHA:251510
Mehmo Syndrome
Babinski sign, Cleft palate, Hypoglycemia, Spastic tetraparesis, Inability to walk, Spasticity, G... OMIM:300148
Oculoskeletodental Syndrome
Hypercalcemia, Macroglossia, Splenomegaly, Thoracic kyphosis, Scoliosis, Hypocalcemia, Lacunar st... OMIM:618440
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Anorexia, ... ORPHA:732
Mirage Syndrome
Hyperkalemia, Hyponatremia, Intracranial hemorrhage, Hypoglycemia, Radial club hand, Leukopenia, ... OMIM:617053
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Feeding difficulties in infancy, Myopathy, Skeletal muscle atrophy, S... ORPHA:682
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Dysphagia, Gait disturbance, Rigidity, Frequent falls, Chorea, Oromandi... ORPHA:216873
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Abnormal circul... ORPHA:86839
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Limb muscle weakness, Distal amyotrophy, Steppage gait, Tremor, Hypertonia, Spasti... OMIM:609260
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Bladder Diverticulum
Urethral sphincter sclerosis, Urinary hesitancy, Hematuria, Dysuria, Recurrent urinary tract infe... OMIM:109820
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Esophageal varix, Hypoglycemia, Rickets, Reduced bone mineral de... OMIM:613658
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Azoospermia, Increased circulating gonadotropin level,... ORPHA:8
Neuraminidase Deficiency
Hepatomegaly, Ascites, Dysmetria, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excreti... OMIM:256550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Hemolytic-uremic syndrome, Anemia, Acute ki... OMIM:612926
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Septic arthritis, Intussusception, Diabetes mellitus, Diarrhea, Hemolytic anemia, Ab... ORPHA:544482
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Irregular vertebral endplates, Kyphoscoliosis, Joint contracture of the hand, Bifid ... OMIM:612350
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, Gastrointestinal hemor... OMIM:193400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria OMIM:120433
Allan-Herndon-Dudley Syndrome
Babinski sign, Feeding difficulties in infancy, Dystonia, Limb hypertonia, Skeletal muscle atroph... ORPHA:59
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Intrauterine growth ... ORPHA:71275
Presynaptic Congenital Myasthenic Syndromes
Spinal deformities, High palate, Arthrogryposis multiplex congenita, Nasal regurgitation, Fatigab... ORPHA:98914
Congenital Myasthenic Syndrome
Spinal deformities, High palate, Arthrogryposis multiplex congenita, Nasal regurgitation, Fatigab... ORPHA:590
Ciliary Dyskinesia, Primary, 40
Rhinitis, Infertility, Azoospermia OMIM:618300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, High palate, Abdominal distention, Splenomegaly, Hepatosplenomegaly, Hepatic fai... ORPHA:1655
Paralysis, Stiff neck, Dysphagia, Hypertension, Anorexia, Hypovolemic shock, Vomiting, Nausea, Ab... ORPHA:2912
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Progressive distal muscular atrophy, Myoclonus, Facial palsy, Fasciculations, Tre... OMIM:159950
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease OMIM:603278
Galactosemia I