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Gene: Mgat2 MGI:2384966

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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:
mannoside acetylglucosaminyltransferase 2
Synonyms:
GNT-II,  CDGS2,  GNT2

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 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mgat2-Cdg
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Gastro... ORPHA:79329
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Thoracolumbar kyphoscoliosis, Short neck, Protruding tongue, Unsteady gait, Hypertonia OMIM:212066

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Myasthenic Syndromes With Glycosylation Defect
Elevated circulating creatine kinase concentration, Generalized weakness of limb muscles, Limb-gi... ORPHA:353327
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Abdomina... ORPHA:398063
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Lower limb spasticity, Kyphoscoliosis, B... ORPHA:496689
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Kyphoscol... OMIM:616668
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... OMIM:612126
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Anemia, Chronic con... ORPHA:209964
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeleta... OMIM:610687
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elevated circulating creatine kinase concentration, Elbow contracture, Ankle con... OMIM:620386
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Abnormal intervertebral disk morphology, Intestinal pseudo-obstructi... ORPHA:85446
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Iron deficie... OMIM:226300
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Scoliosis, Ataxia, Anemia ORPHA:2802
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Unsteady gait, Babinski sign, Limb atax... ORPHA:3115
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Feeding difficulties in... OMIM:609285
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Petechiae, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, F... OMIM:615883
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Feeding di... ORPHA:2169
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... ORPHA:98870
Sandhoff Disease, Adult Form
Dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Upper limb mus... ORPHA:309169
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Porphyria, Acute Hepatic
Hemolytic anemia, Abdominal colic, Paralysis, Respiratory paralysis, Vomiting OMIM:612740
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... ORPHA:71277
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Lymphangiectasia, Intestinal
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... OMIM:603553
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired rist... OMIM:231200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, Hypocalcemia, A... ORPHA:100025
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Feeding difficulties in infancy, Unsteady gait, Hypertonia, Myoclonus, Anemia OMIM:610090
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... ORPHA:276435
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla... OMIM:619858
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Petechiae, Recurrent fractures, Facial palsy, Sp... OMIM:611490
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Feeding difficulties in infancy, Dysphagia, Type 2 muscle f... OMIM:603034
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... ORPHA:849
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Kyphosco... ORPHA:300179
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Gastrointestinal hemorrhage, Pancytopenia, Dystonia, Ataxia, Portal hypertension, Ret... OMIM:617341
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Snakebite Envenomation
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Cardio... ORPHA:449285
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrh... ORPHA:90362
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Hepatosplenomegaly, Myopathy ORPHA:33574
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Malabsorption, Hypocalcemia, Reduced bone mineral density ORPHA:172
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute ... ORPHA:90038
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Hypoglycemia, Kyphosis, Osteoporosis, Abno... ORPHA:48431
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Hypomagnesemia, Diarrhea, Xerostomia, Hamartomatous poly... OMIM:175500
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Acute Peripheral Arterial Occlusion
Myocardial infarction, Paralysis, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse... ORPHA:90064
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Osteop... OMIM:212750
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Scoliosis, Difficulty walking, Dist... OMIM:605285
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Lymphocytosis, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abdominal pain, Sple... OMIM:615895
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Recurrent fractures, Inability to walk, Feeding difficulties, Intrau... OMIM:620368
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Weakness of facial musculature, Type 2 muscle fiber atrophy, High palate, Scoliosis... OMIM:608930
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Vomit... ORPHA:14
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope... OMIM:259700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Lymphopenia, Hypoproteinemia, Malabsorption ORPHA:1116
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Rhabdomyol... ORPHA:713
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Impaired myocardial contractil... ORPHA:681
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Imerslund-Grasbeck Syndrome 1
Somatic sensory dysfunction, Proteinuria, Megaloblastic anemia, Paresthesia, Microscopic hematuria OMIM:261100
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Abnormal bleeding, Abdominal pain, High, narrow p... ORPHA:79076
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent... OMIM:617021
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Difficulty walking, Paralysis OMIM:608634
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Pathologic fracture, Volvulus, Intu... OMIM:112200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Elevated circulating creatin... ORPHA:26793
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... OMIM:136300
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Babinski... OMIM:275900
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint con... OMIM:617977
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Microangiopathic hemolytic anem... ORPHA:54057
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Ataxia, Hepatomegaly ORPHA:2274
Lethal Congenital Contracture Syndrome 8
Oral-pharyngeal dysphagia, Flexion contracture, Vocal cord paralysis, Feeding difficulties, Facia... OMIM:616287
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Facial hypotonia, Kyphoscoliosis, Short neck, Tremor, Parkinson... OMIM:300055
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Intellectual Developmental Disorder, X-Linked 111
Cerebral palsy, Kyphoscoliosis, Unsteady gait, Feeding difficulties, Dystonia, Spasticity OMIM:301107
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... ORPHA:169802
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, High, narrow... ORPHA:536516
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,... OMIM:614034
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Paralysis, Knee flexion contracture, Facial d... OMIM:616286
Lymphatic Filariasis
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality ... ORPHA:2035
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Feeding difficulties, Increased mea... OMIM:613839
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased... OMIM:187900
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Dysphagia,... OMIM:254210
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, Myopathy, Erythroid hyperplasia OMIM:300653
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Small hypothenar eminence, Osteoporosis, Cleft palate, Increased m... OMIM:612562
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat... OMIM:615048
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... OMIM:611590
Hematuria, Benign Familial, 1
Hematuria, Thin glomerular basement membrane OMIM:141200
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Back pain, Abdominal pain, Feeding difficulties in infancy, Abdomina... ORPHA:2924
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Feeding difficulties in infancy, Type 2 muscle fiber atrophy, Generalized hypotonia due to defect... OMIM:605809
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Dysmetria, Nephro... OMIM:301006
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Feeding difficulties in infan... OMIM:607855
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, In... OMIM:618892
Foxg1 Syndrome
Dystonia, Kyphoscoliosis, Inability to walk, Feeding difficulties, Choreoathetosis, Hyperkinetic ... ORPHA:561854
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteo... ORPHA:53
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Johanson-Blizzard Syndrome
Diabetes mellitus, Malabsorption, Anteriorly placed anus, Anemia, Intrauterine growth retardation... ORPHA:2315
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculo... OMIM:619644
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, High palate, Hypertonia, Myoclonus, C... OMIM:618011
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Bea... OMIM:616583
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Kyphoscoliosis, High, narrow palate, Shuffling gait, Hypermobility of inte... ORPHA:3433
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Portal hypertension, Abdominal pain, Leukocytosis, Osteoporosis, Hepatospl... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Osteoporosis, T... OMIM:614727
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate current... OMIM:616321
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Difficulty walking, Paralysis OMIM:613710
Reni Syndrome
Diffuse mesangial sclerosis, Ataxia, Proteinuria, Mesangial hypercellularity, Podocyte foot proce... OMIM:617575
Classic Galactosemia
Speech apraxia, Incoordination, Ataxia, Postural tremor, Hypoglycemia, Abnormal erythrocyte enzym... ORPHA:79239
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Back pain, Kyphoscoliosis, Rigidity, Abnormal pyramidal sign, Cervical spondylosi... ORPHA:199354
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Spermatogenic Failure 17
Male infertility OMIM:617214
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Feeding difficulties, Intrauterine growth ret... ORPHA:96183
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... OMIM:619574
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Increased bone mineral density, F... OMIM:259720
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Thrombocytopenia... OMIM:210250
Variegate Porphyria
Tachycardia, Paralysis, Abdominal pain, Increased fecal protoporphyrin concentration, Constipatio... OMIM:176200
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption, Splenomegaly, Osteoporosis ORPHA:79301
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Kyphoscoliosis, Clumsiness, Generalized amyotrophy, Scoliosis, Dysphagia, T... OMIM:614707
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Anemia ORPHA:375
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Kyphoscoliosis, Gait ataxia, Distal amyotrophy, Action tremor OMIM:180800
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Kyphoscoliosis, Tremor, Inability to walk, Spasticity, Feeding difficulties, Choreoathe... OMIM:617664
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Ataxia, Myocardial infarction,... ORPHA:3452
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Central Core Disease
Joint laxity, Multiple joint contractures, Elevated circulating creatine kinase concentration, Ky... ORPHA:597
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti... OMIM:603903
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Rhabdoid Tumor
Nausea and vomiting, Cerebral palsy, Hypercalcemia, Poor appetite, Abdominal pain, Anemia, Neopla... ORPHA:69077
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... ORPHA:99947
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Feeding difficulties, Upper limb muscle weakn... OMIM:601462
Autoimmune Hypoparathyroidism
Abdominal symptom, Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia,... ORPHA:36913
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Flexion contracture, Elev... OMIM:215100
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Vocal cord paralysis, ... ORPHA:98863
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Diar... ORPHA:247585
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Hypoglycemia, Spastic tetraparesis, Dystonia ORPHA:67046
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of lon... ORPHA:98913
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Ataxia, Proteinuria, Skin rash, ... ORPHA:36412
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Osteolysis involving bones of the upper limbs, Bloody diarrhea, Intracran... ORPHA:464321
Legionnaires Disease
Renal insufficiency, Pericarditis, Ataxia, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepa... ORPHA:549
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Nasogastric tube f... ORPHA:90117
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventric... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventric... ORPHA:98853
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Kypho... OMIM:618484
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Inability to walk, Limitation... ORPHA:3101
Typhoid
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Abdominal pain, Tremor, Splenomeg... ORPHA:99745
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Flexion contracture, Hypoproteinemia, Hypertonia OMIM:608093
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Propionic Acidemia
Pancytopenia, Dystonia, Hypoglycemia, Poor appetite, Feeding difficulties in infancy, Cerebellar ... OMIM:606054
Pediatric Systemic Lupus Erythematosus
Dark urine, Lymphopenia, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus ras... ORPHA:93552
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Vomiting,... ORPHA:94093
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Abdominal pa... ORPHA:822
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis, Fatigable weakness, High palate, Gait disturbance OMIM:614198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Increased skull ossification, Craniofacial ... OMIM:618476
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Stiff neck, Dystonia, Kyphoscoliosis, Tetraparesis, Dysphagia OMIM:618230
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia, Rigidity, Inability to walk, Feeding difficulties, Athetosis, Gait disturbance, Myo... OMIM:618241
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxi... ORPHA:99147
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H... ORPHA:811
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Spasticity, Ataxia, Hypoglycemia OMIM:240800
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Poor appetite, ... ORPHA:35858
Diamond-Blackfan Anemia 6
Macrocytic anemia, Cleft palate, Persistence of hemoglobin F, Mitral regurgitation, Increased mea... OMIM:612561
X-Linked Agammaglobulinemia
Osteomyelitis, Malabsorption, Chronic diarrhea, Anemia, Arthritis, Glossoptosis, Hypocalcemia, Ne... ORPHA:47
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemiparesis OMIM:106070
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Childhood-Onset Nemaline Myopathy
Flexion contracture, Neuromuscular dysphagia, Increased muscle lipid content, High palate, Type 1... ORPHA:171439
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hyperlipidemia, Abdominal distention, Gastroesophageal reflux, Hypoalbuminemia,... OMIM:256300
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Kyphoscoliosis, Inability to walk, Unsteady gait, Upper limb amyotrophy, Distal ... ORPHA:99950
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal form of the vertebral bodies, ... ORPHA:93160
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia... ORPHA:42
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Short Stature Due To Ghsr Deficiency
Vomiting, Hypoglycemia, Abdominal pain ORPHA:314811
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
King-Denborough Syndrome
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n... OMIM:619542
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... OMIM:176920
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Upper limb muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor we... OMIM:605588
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Ataxia, Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial inf... OMIM:155100
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:300280
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Dista... OMIM:616228
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle hypertrophy, Gait disturbance, Gait imbalance ORPHA:101081
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Flexion contracture, Kyphoscoliosis, Feeding difficulties OMIM:618006
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Paralysis, R... ORPHA:36382
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia ORPHA:1192
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l... OMIM:619924
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Feeding difficulties in infancy, Congestive heart failure, Rhabdomyolysi... ORPHA:746
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... OMIM:607641
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Inability to walk, Intrinsic hand mus... ORPHA:101077
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypoplasia of t... OMIM:603554
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Hypersplenism, Splenomegaly,... ORPHA:64743
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Fasting hypoglycem... ORPHA:171706
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... OMIM:182980
Enterokinase Deficiency
Diarrhea, Hypoproteinemia OMIM:226200
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Renal Hypoplasia, Bilateral
Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta... ORPHA:97362
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... OMIM:152700
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Flexion contracture, Hepatosplenomegaly, Clumsiness, Ey... ORPHA:2590
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... ORPHA:324636
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Colitis, ... ORPHA:37042
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Elevated circulating creatine kinas... OMIM:159950
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Cleft palate OMIM:300946
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diar... ORPHA:99826
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... OMIM:612526
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... ORPHA:424107
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Hypoglycemia, Elevated circ... OMIM:276700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Short neck, Splenomegaly, Abdominal distention, Cleft palate, High palate, Hypocalcemia, Protein-... OMIM:235255
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Telangiectasia, Muscular dystrophy, ... ORPHA:459033
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Limited wrist extension, ... ORPHA:98915
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumb... ORPHA:3041
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopeni... ORPHA:520
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Cednik Syndrome
Nephrotic syndrome, Hypogonadism, Ataxia, Proteinuria ORPHA:66631
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Cerebral palsy, Subarachnoid hemorrhage, Neonatal... ORPHA:853
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Anemia ORPHA:510
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Feeding difficulties in infancy, Flexion contrac... ORPHA:59
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Hyperl... OMIM:300718
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:35909
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Intrauterine growth retardation, Decreased skull ossification, Calv... OMIM:244460
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... ORPHA:326
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy... ORPHA:99845
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea... ORPHA:3319
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnormality of the menstru... ORPHA:556
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Limited interphalangeal movement, Frequent falls, Limited wrist m... ORPHA:99948
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Hematuria, Infertility, Renal arter... ORPHA:71273
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, M... ORPHA:347
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Abnormal intestine mor... OMIM:606528
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Upper limb postural tre... ORPHA:98805
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... ORPHA:99750
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Anorexia, ... ORPHA:3077
Spinocerebellar Ataxia, Autosomal Recessive 20
Ataxia, Kyphoscoliosis, Inability to walk, Splenomegaly, Babinski sign, Macroglossia, High palate... OMIM:616354
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Anorexia, Vertebral clefting, Inc... OMIM:241500
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Back pain, Thoracic kyphoscoliosis, Kyphoscoliosis, Short neck, F... OMIM:613330
Hyperkalemic Periodic Paralysis
Hyponatremia, Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated ... ORPHA:682
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Episodic Ataxia Type 1
Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Tip-toe ... ORPHA:37612
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli... ORPHA:77297
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Feeding di... OMIM:617710
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Intrauterine growt... ORPHA:93324
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Hepatiti... OMIM:304790
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... ORPHA:400
Moderate Hemophilia A
Gastrointestinal hemorrhage, Hip contracture, Epidural hemorrhage, Abnormal bleeding, Prolonged b... ORPHA:169805
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... OMIM:175200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... OMIM:616860
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... ORPHA:324575
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Nephrotic Syndrome, Type 22
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... OMIM:619155
Dubowitz Syndrome
Anal stenosis, Sacral dimple, Abnormality of neutrophils, Craniosynostosis, Malabsorption, Thromb... ORPHA:235
Pseudohypoparathyroidism Type 1B
Calcinosis, Abdominal symptom, Increased bone mineral density, Prolonged QT interval, Short neck,... ORPHA:94089
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Diarrhea, Schistocytosis, Elevated circulating creatinine concentration, Hyperli... OMIM:235400
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... OMIM:607317
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Feeding difficulties, Myo... ORPHA:26792
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Difficulty walking, Dystonia OMIM:616684
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Rabies
Nausea and vomiting, Cerebral palsy, Sudden cardiac death, Anorexia, Diarrhea, Vocal cord paresis ORPHA:770
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... ORPHA:328
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Gastrointestinal infarctions, Intestinal bleeding, Vo... ORPHA:1059
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Flexion contracture, Babinski sign, Spasticity, Distal amyotrophy, Steppage gait, Hyperto... OMIM:609260
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... OMIM:127550
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis, Gastroesophageal reflux, Cleft palate OMIM:612913
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Gait ataxia, Recurrent... OMIM:616817
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Projectile vomiting, Kyphoscoliosis, Abnormal pyramidal sign, Spastic pa... OMIM:260600
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Schimke Immuno-Osseous Dysplasia
Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytopenia, Stage 5 ... ORPHA:1830
Bacterial Toxic-Shock Syndrome
Myositis, Elevated circulating creatine kinase concentration, Increased circulating myelocyte cou... ORPHA:36234
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Abdominal symptom, Hyperphosphatemia, Hypocalcemia, Myoclonic ... ORPHA:94090
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Mirage Syndrome
Hyponatremia, Petechiae, Hypoglycemia, Radial club hand, Thrombocytopenia, Esophageal stricture, ... OMIM:617053
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, High palate, Gastroesophageal reflux, Vomiting, Hypocal... OMIM:613658
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Abnormal circulating cholesterol concentration, High palate... ORPHA:251383
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Tongue atrophy, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, F... ORPHA:216873
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Hip contracture, Skeletal muscle atrophy, Lumbar hyperlordosis, Shoulder flexion c... OMIM:255800
Mehmo Syndrome
Hypoglycemia, Spastic tetraparesis, Inability to walk, Babinski sign, Cleft palate, Gait ataxia, ... OMIM:300148
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Restrictive Dermopathy 2
Intrauterine growth retardation, Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction, Paralysis ORPHA:132
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Splenomega... ORPHA:1414
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Short neck, Splenomegaly, Abdominal distention, Hepatosplenomegaly, High palate, Hypocalcemia, Pr... ORPHA:1655
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... OMIM:617052
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase concentration, My... ORPHA:732
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint laxity, Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... OMIM:277720
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Abnormality o... ORPHA:275555
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho... ORPHA:466722
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Spina bifida occulta, Narrow palate, Intestinal lymphangiectasia, Protein-losing... OMIM:235510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612926
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... ORPHA:71275
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Cerebral palsy, Peptic ulcer, Malabsorption, Splenome... ORPHA:2796
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Waddling gait, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle a... OMIM:612350
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Hypoalbuminemia, Protein-losing enter... ORPHA:79319
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Abnormal bleeding, Anemia of ... ORPHA:86839
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic... ORPHA:567546
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Elbow flexion contracture, Lacunar stroke, Macroglossia, Protein-los... OMIM:618440
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Idiopathic Camptocormia
Myositis, Abnormal intervertebral disk morphology, Elevated circulating creatine kinase concentra... ORPHA:1320
Igg4-Related Kidney Disease
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... ORPHA:449395
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali... ORPHA:98914
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, High palate, Gastroesophageal reflux, Muscle fiber atrophy, Frontali... ORPHA:590
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Ataxia, Hypoglycemia, Feeding difficulties, Decreased liver function, D... OMIM:246900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... OMIM:614376
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Ataxia, Elevated circulating branched chain amino acid con... ORPHA:2394
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Osteoarth... ORPHA:77259
Poliomyelitis
Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Paralysis, Anorexia, Inabilit... ORPHA:2912
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:264700
16Q24.3 Microdeletion Syndrome
Kyphosis, Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, Increased mean corp... ORPHA:261250
Klippel-Trénaunay Syndrome
Hepatomegaly, Abnormality of the menstrual cycle, Microcytic anemia, Hematuria, Ascites ORPHA:90308
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Prolonged bleeding time, Gastritis, Peri... ORPHA:809
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Schistocytosis, Elevat... OMIM:274150
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... ORPHA:465
Congenital Myopathy 15
Osteopenia, Waddling gait, Tricuspid regurgitation, Fatty replacement of skeletal muscle, Vocal c... OMIM:620161
Hypotonia-Cystinuria Syndrome
Facial palsy, Feeding difficulties in infancy, Ragged-red muscle fibers, Hypocalcemia, Neonatal h... OMIM:606407
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita... OMIM:602450
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria OMIM:120433
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomiti... ORPHA:544482
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Dystonia-Deafness Syndrome 1
Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Leg dystonia, Cleft palate, Pseudobulbar... OMIM:607371
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Hypoglycemia OMIM:223500
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Feeding difficulties, Hype... OMIM:617913
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Feeding difficulties, Limb dystonia, Intermittent diarrhea, Hypertrophic cardiomy... OMIM:620270
Warburg Micro Syndrome 1
Kyphoscoliosis, Osteoporosis, Spastic diplegia, Joint hypermobility OMIM:600118
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Inability to walk, Babinski sign, Flexion contracture, Feeding difficulties, Tetr... OMIM:617105
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... OMIM:617013
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Poikilocytosis, Fava b... OMIM:300908
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Hypocalcemia, Short neck ORPHA:1438
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy, Decreased liver function, Spasticity, Thrombocytopenia ORPHA:67048
Hypertrophic Neuropathy Of Dejerine-Sottas
Broad-based gait, Kyphoscoliosis, Distal amyotrophy, Steppage gait, Tongue fasciculations, Scolio... OMIM:145900
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia, Unsteady gait, Gastroesophageal reflux, Gait ataxia OMIM:618158
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Dysphagia OMIM:300857
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abnorm... ORPHA:440437
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Proteinuria, Splenomegaly, Athetosis, Nephrotic syndrome, Ascites ORPHA:834
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Feeding difficulties, Dystonia, Loss of ambulat... OMIM:615010
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Distal sensory i... OMIM:614455
Ichthyosis--Cheek--Eyebrow Syndrome
High palate, Kyphoscoliosis OMIM:146720
Liver Disease, Severe Congenital
Chronic gastritis, Abnormal left ventricular function, Leukopenia, Protein-losing enteropathy, Ly... OMIM:619991
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Galactosemia I
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Sanjad-Sakati Syndrome
Intestinal obstruction, Patchy osteosclerosis, Spinal canal stenosis, Myopathy, Hyperphosphatemia... ORPHA:2323
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Short neck, Congestive hear... OMIM:105650
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Bruising susceptibility, Joint hyperflexibi... ORPHA:230839
Pseudohypoparathyroidism Type 1A
Calcinosis, Abdominal symptom, Increased bone mineral density, Prolonged QT interval, Involuntary... ORPHA:79443
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Arthritis, Infertility, C... OMIM:602390
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... ORPHA:3467
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Colchicine Poisoning
Hyponatremia, Congestive heart failure, Leukocytosis, Diarrhea, Hypovolemia, Abnormal blood ion c... ORPHA:31824
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Bloody diarrhea, Paralytic il... ORPHA:810
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Gait distur... ORPHA:101075
Brucellosis
Liver abscess, Chorea, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ence... ORPHA:1304
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Abdominal pain, Diarrhea, Limitation... ORPHA:343
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Chorea, Cheilitis, Ly... ORPHA:536
Infantile Myofibromatosis
Intestinal obstruction, Hypercalcemia, Hemiplegia/hemiparesis, Abnormal sacrum morphology, Bone c... ORPHA:2591
Beta-Thalassemia Major
Extramedullary hematopoiesis, Anemia of inadequate production, Hypoplasia of the musculature, Hig... ORPHA:231214
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Tremor, Re... ORPHA:904
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Majeed Syndrome
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... OMIM:609628
Autosomal Dominant Spastic Paraplegia Type 29
Clonus, Hiatus hernia, Babinski sign, Hyperbilirubinemia, Abnormal rectum morphology ORPHA:101009
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Advanced ossification of carpal bones, Cleft pala... OMIM:618363
Progressive Pseudorheumatoid Dysplasia
Waddling gait, Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteopor... OMIM:208230
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Flexion contracture, Pro... OMIM:607706
Primary Angiitis Of The Central Nervous System
Nausea and vomiting, Cerebral vasculitis, Ataxia, Parkinsonism, Transient ischemic attack, Paraly... ORPHA:140989
Dysspondyloenchondromatosis
Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Vertebral segmentation defect, Platyspo... ORPHA:85198
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Clonus, Elevated circulating creatine kinase concentration, Intraventricular hemorr... OMIM:619055
Galloway-Mowat Syndrome 5
Ataxia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-... OMIM:617731
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Oslam Syndrome
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia ORPHA:446
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating creatine kinase concentration, Clonus, Feeding difficulties in infancy, Gast... ORPHA:480864
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Intrauterine growth retardation ORPHA:79445
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Hematuria, Nephropathy, Nephrolithiasis ORPHA:2196
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Feeding difficulties, Hyperkinetic movements, Hemiballismus, Frequ... OMIM:616921
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Scoliosis ORPHA:640
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, M... ORPHA:175
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Diabetes mellitus, Sp... ORPHA:90041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... ORPHA:277
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhab... OMIM:618120
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypoglycemia, Spastic tetraplegia, Spasticity, ... OMIM:300438
Oculoskeletodental Syndrome
Hypercalcemia, Hyperlordosis, Thoracic kyphosis, Hypocalcemia, Scoliosis ORPHA:557003
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... OMIM:156530
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Nasogastric tube feeding in infancy, Chorea, Unsteady gait, Feeding difficulties, Hemibal... ORPHA:494526
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Dystonia, Anisocytosis, Leukocytosis, Diarrhea, Tetraplegia, H... OMIM:618278
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thr... OMIM:603909
Autosomal Dominant Hypocalcemia
Writer's cramp, Abdominal pain, Congestive heart failure, Reduced bone mineral density, Fatigable... ORPHA:428
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Dystonia, Ataxia, Neonatal hypoglycemia, Tremor, Congestive heart failure, Fle... OMIM:616271
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118220
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Increased c... ORPHA:85443
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Dista... OMIM:618387
Non-Functioning Paraganglioma
Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal co... ORPHA:94080
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... ORPHA:144
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Renal insufficiency, Proteinuria OMIM:245900
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... OMIM:610377
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia OMIM:609016
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Pyloric stenosis, Chronic diarrh... OMIM:616355
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice... ORPHA:2137
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia... OMIM:610539
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Vomiting, Dystonia, Intermittent dia... ORPHA:289504
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... OMIM:619473
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Scoliosis, Difficu... OMIM:614018
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Hand muscle weakness, Tr... ORPHA:99956
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, High palate, Increased variability in muscle f... OMIM:616470
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Vomiting, Increased bl... OMIM:617872
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Ataxia, Malabsorption, Joint stiffness, Feeding d... ORPHA:3463
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hypoglycemia, Abdominal distention, Hyperlipidemia, Osteoporosis, Hepatocellular carc... ORPHA:369
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuria, Abnormality of the urinary s... ORPHA:91547
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functiona... ORPHA:29073
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Poor suck, Elevated circulating suberic a... OMIM:615160
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... OMIM:604290
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia, Hypomimic face OMIM:128235
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Distal amyotrophy, Steppage gait, Difficulty walking, Foot dorsiflexor weakness OMIM:604563
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphra... OMIM:613177
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Dystonia, Cardiac arrest, Akinesia, Acanthocytosis, Short neck, Kyphoscoliosis... OMIM:618947
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Ataxia, Feeding difficulties in infancy, Splenomegal... OMIM:619046
Rahman Syndrome
Kyphoscoliosis, Feeding difficulties, Chronic constipation, Hypertonia, Camptodactyly OMIM:617537
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood i... ORPHA:173
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Ataxia, Proteinuria ORPHA:225
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Neutropenia, Hyperammonemia, Feeding difficulties, Dysphagia, Loss of ambulation, I... OMIM:618253
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... OMIM:601005
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Tenorio Syndrome
Osteopenia, Joint laxity, Cerebral palsy, Hypoglycemia, Raynaud phenomenon, Clumsiness, Macroglos... OMIM:616260
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... OMIM:300559
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Persistent fetal circulation, Pyloric sten... ORPHA:363705
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Arthritis, Myopathy, Dysphagi... ORPHA:397744
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Ataxia, Epistaxis, Abnormality of neutrophils, Ma... ORPHA:33226
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Feeding difficulties, Sy... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Chronic constipation, Hype... OMIM:620211
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... OMIM:128100
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Aplasia Cutis Congenita
Prolonged bleeding time, Facial palsy, Abnormality of bone mineral density ORPHA:1114
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Broad-based gait, Diabetes mellitus, Hypoglycemia, Kyphoscoliosis, Short neck, Scol... ORPHA:391408
Williams-Beuren Syndrome
Osteopenia, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Vocal cord par... OMIM:194050
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Feeding difficulties in infancy, Congestive heart failure, Decreased plasma free ca... OMIM:619048
Horner Syndrome, Congenital
Paralysis OMIM:143000
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Pearson Syndrome
Hypocalcemia, Neutropenia, Reticulocytosis, Ataxia, Chronic diarrhea, Cardiomyopathy, Hypokalemia... ORPHA:699
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephroblastoma
Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy ORPHA:654
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Sudden cardiac death, Elevated circulating acylca... ORPHA:99901
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating creatine kinase concentration, Clonus, Oral-pharyngeal dysphagia, Ventricula... OMIM:616878
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... OMIM:243150
Hemochromatosis, Neonatal
Abnormal bleeding, Hypoglycemia, Increased circulating ferritin concentration, Increased serum ir... OMIM:231100
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Pseudohypoparathyroidism, Type Ic
Short neck, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany OMIM:612462
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration... ORPHA:79240
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Thrombocytopenia, Osteoporosis, Abnormal pyra... OMIM:612199
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Bow... ORPHA:329478
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Speech apraxia, Stiff neck, Incoordination, Facial palsy, Ele... ORPHA:297
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Feeding difficulties, Ankle c... OMIM:617435
Diamond-Blackfan Anemia
Acute myeloid leukemia, Abnormality of the thenar eminence, Cleft soft palate, Pure red cell apla... ORPHA:124
Gray Platelet Syndrome
Myelofibrosis, Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet agg... OMIM:139090
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Decreased hip abduction, Lumbar hyperlordosis, Camptodactyly of finger, Th... OMIM:114300
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ... ORPHA:101097
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Feeding difficulties, Decreased circul... ORPHA:276556
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Thyrotoxic Periodic Paralysis
Tremor, Impaired myocardial contractility, Respiratory paralysis, Periodic hypokalemic paresis, L... ORPHA:79102
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Feeding difficulties in infancy, Nasogastric tube f... ORPHA:565624
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Hyperammonemia, Vomiting, Hyperuricemia, Myoclonus, Spasticity, Anemia OMIM:246450
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Leprechaunism
Skeletal muscle atrophy, Abdominal distention, Rectal prolapse, Insulin resistance, Hyperinsuline... ORPHA:508
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Nausea and vomiting, Orthostatic hypotension,... ORPHA:199299
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria,... ORPHA:251004
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Insulin resistance, Flexion contracture, Osteoporosis, Elbow flexion contracture,... OMIM:214150
Denys-Drash Syndrome
Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Nephropathy, Nep... ORPHA:220
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Japanese Encephalitis
Skeletal muscle atrophy, Stiff neck, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Hypertonia,... ORPHA:79139
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hypoglycemia, Elevated circulating creatine kinase con... ORPHA:26791
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ... ORPHA:319218
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... OMIM:302800
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function, Neona... OMIM:618835
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Raynaud phenomenon, Elevated circulating creatini... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Decreased liver... OMIM:618839
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis ORPHA:101078
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Pyloric stenosis, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Proteinuria, Nephr... OMIM:607426
Glycogen Storage Disease Iii
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myopathy, Dista... OMIM:232400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflexor weakness OMIM:118200
Hypophosphatasia
Hypercalcemia, Recurrent fractures, Craniosynostosis, Feeding difficulties in infancy, Anemia ORPHA:436
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Gastritis, Facial palsy, ... ORPHA:31826
Hsd10 Disease, Infantile Type
Dystonia, Hypoglycemia, Spastic tetraparesis, Gastrointestinal dysmotility, Poor coordination, Sp... ORPHA:391428
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... ORPHA:906
Immunodeficiency 19
Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... OMIM:615617
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Feeding difficulties, Decreased circulating... ORPHA:276575
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Dystonia, Oculogyric crisis, Tremor, Inability to walk, Scoliosis, Diffi... ORPHA:330050
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Inability to walk, Hyperammonemia, Feeding difficulties, Abnormality of extrapyrami... OMIM:614739
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Kyphoscoliosis, Short neck, Feeding difficulties in infancy, Gian... OMIM:611209
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... OMIM:617916
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Sp... OMIM:219800
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis... OMIM:618204
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ... ORPHA:98855
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria ORPHA:1473
Cog8-Cdg
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Spontaneous hematomas, Prolonged prothrombin time,... ORPHA:95428
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:276608
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... ORPHA:48818
Congenital Factor Ii Deficiency
Abnormal bleeding, Prolonged bleeding after dental extraction, Epistaxis, Prolonged bleeding foll... ORPHA:325
Immunodeficiency 23
Hemolytic anemia, Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, ... OMIM:615816
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Severe intrauterine growth retardation, B... OMIM:241410
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr... ORPHA:158048
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Ruvalcaba Syndrome
Hematuria, Cryptorchidism, Abnormal localization of kidney ORPHA:3121
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dysmetria, Adductor lo... OMIM:210000
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Postural tremor, Fatty r... OMIM:619790
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... ORPHA:352540
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Broad-based gait, Vocal cord paresis, Intrinsic hand muscle atrophy, Gai... OMIM:614895
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Hematuria, Anemia, Thrombocytopenia ORPHA:90060
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacteria... ORPHA:276
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,... OMIM:615924
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Decreased serum thromboxane B2, Bruising suscepti... OMIM:614158
Pseudohypoparathyroidism Type 1C
Calcinosis, Abdominal symptom, Increased bone mineral density, Prolonged QT interval, Short neck,... ORPHA:79444
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Abnormal bleeding, Anisocytosis, Increased stool u... ORPHA:79277
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentrat... ORPHA:466650
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi... OMIM:613280
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Leukopenia, Tubulointerstitial nep... ORPHA:289390
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Protruding tongue, Inability to walk, Co... ORPHA:324410
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Joint stiffness, Tremor, Proxi... ORPHA:209335
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Drug-Induced Lupus Erythematosus
Pericarditis, Hematuria, Anemia, Malar rash, Serositis, Thrombocytopenia ORPHA:231111
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Short neck, Fatigable weakness of distal limb... ORPHA:171436
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Osteoporosis, Cleft palate, Gastroesophageal reflux, Constipation, Pulmonary arte... ORPHA:447980
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Acute rhabdomyolysis, Kyphoscoliosis, Chorea, Babinski sign OMIM:604168
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... OMIM:306900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, V... ORPHA:79159
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... ORPHA:1855
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Diarrhea 13
Hypoalbuminemia, Recurrent hypoglycemia, Secretory diarrhea, Vomiting OMIM:620357
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Kyphosis, Limb myoclonus, Functional ... ORPHA:3095
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hyperammonemia, Feeding difficulties, Hypertrophic cardiomyopathy, Bradycardia, Dys... OMIM:614702
Amyotrophic Lateral Sclerosis
Nausea and vomiting, Skeletal muscle atrophy, Paralysis, Fatigable weakness of bulbar muscles, Xe... ORPHA:803
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... ORPHA:447
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Increased in... ORPHA:183
Coffin-Siris Syndrome 6
Kyphoscoliosis, High, narrow palate, Cleft palate, Constipation, Gastroesophageal reflux, Diaphra... OMIM:617808
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Diarrhea, Increased muscle glycogen content, Hyperuricemia OMIM:261750
Hemophilia B
Hematuria, Menometrorrhagia ORPHA:98879
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Joint stiffness, Splenomegaly, Diarrhea, Ovoid thoracolumbar vertebrae, Asymmetri... OMIM:252930
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Myocardial infarction, Limitation of joint mobility, Osteoporosis, Hyperhomocysti... OMIM:236200
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop... ORPHA:667
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Diffuse alv... OMIM:616050
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Limited elbow... OMIM:121050
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Myopathy With Extrapyramidal Signs
Joint laxity, Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase co... OMIM:615673
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia OMIM:266150
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Cerebral Cavernous Malformations 3
Cerebral hemorrhage, Paralysis OMIM:603285
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Lower limb spasticity, Diaphragmatic eventration, Ataxia, Dilated cardiomy... ORPHA:66634
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, G... OMIM:615157
Q Fever
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Thro... ORPHA:781
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi... OMIM:607155
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Hypokalemia, Periodic paralysis OMIM:613345
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... OMIM:607944
Classical Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Osteoarthritis, Gene... ORPHA:287
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... OMIM:612736
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:470
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici... OMIM:606159
Chronic Mucocutaneous Candidiasis
Dyspareunia, Recurrent urinary tract infections, Skin rash, Hepatitis, Cheilitis, Hematuria, Abno... ORPHA:1334
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Spasticity, Hypoglycemia, Hyperammonemia ORPHA:6
Classic Homocystinuria
Gastrointestinal hemorrhage, Recurrent fractures, Anorexia, Joint stiffness, Pulmonary embolism, ... ORPHA:394
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Craniosynostosis, Feeding difficulties in inf... OMIM:301056
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Hereditary Mucoepithelial Dysplasia
Hematuria, Abnormal morphology of female internal genitalia, Abnormality of the bladder ORPHA:1839
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Ane... OMIM:159550
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Tremor, Abnormal circulating fatty-acid concentration, Diarrhea, Hyperinsulinemia, G... ORPHA:263455
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture, Knee flexion contracture, Wri... OMIM:610758
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent... OMIM:615518
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Kyphoscoliosis, Unsteady gait, Distal amyotrophy, Gait disturbance, Frequent... OMIM:601455
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... OMIM:607458
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Beta-Ketothiolase Deficiency
Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Diarrhea, Hyperammonemia, Hyperglycemia, Hypertensi... ORPHA:134
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Feeding difficulties, Choreoathetosis, High palate, Lumbar kyphoscolios... OMIM:619422
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Abdominal pain, Chronic diarrhea, Oligoarthritis, Chronic ... OMIM:142680
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Polycythemia Vera
Myelofibrosis, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulm... ORPHA:729
Autosomal Recessive Spastic Paraplegia Type 23
Waddling gait, Kyphoscoliosis, Bowel incontinence, Bowel urgency, Spastic paraplegia, Spastic gait ORPHA:101003
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... OMIM:194380
Joubert Syndrome 18
Joint laxity, Kyphoscoliosis, Cleft palate, Lobulated tongue, Camptodactyly, Intrauterine growth ... OMIM:614815
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... ORPHA:363710
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Hypoglycemia, Tarsal synostosis,... ORPHA:565
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Feeding difficulties, Choreoathetosi... OMIM:261640
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Thoracic scoliosis, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:610185
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Chorea, Chore... ORPHA:506
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hypoglycemia, Kyphoscoliosis, Feeding difficulties, High palate, Neutropenia, Intraut... OMIM:618005
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia, Short neck, Platyspondyly, Dysphagia, Intrauterine growth retardation OMIM:618958
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyra... ORPHA:96
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ataxia, Tremor, Gastrointestinal dysmotility, Dysphagia, Weakness of facial musculature OMIM:618637
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis OMIM:269840
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... ORPHA:240103
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V... ORPHA:79456
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Feeding difficulties in infancy, Cleft palate, Intrauterine growth retardation, Gas... ORPHA:231147
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Rift Valley Fever
Back pain, Abnormal bleeding, Anorexia, Paralysis, Hematemesis, Paraparesis, Retinal hemorrhage, ... ORPHA:319251
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype... OMIM:619386
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Calcinosis, Myositis, Bundle branch block, Pericarditis, Elevated ci... ORPHA:93672
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... ORPHA:231393
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... ORPHA:97214
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Kyphoscoliosis, Babinski sign, Hepatosp... ORPHA:397709
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... OMIM:300232
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Abdominal pain, Thrombocytopenia, Abdominal distention, Leukopenia, P... ORPHA:2330
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod... ORPHA:169154
Propionic Acidemia
Hypoglycemia, Hyperammonemia, Cardiomyopathy, Constipation, Arrhythmia ORPHA:35
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Upper motor neuron dysfunction, Limb joint contracture, Kyphoscoliosis OMIM:612079
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Spastic tetraplegia, Kyphoscoliosis OMIM:300886
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Oste... OMIM:606069
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... OMIM:208920
Hsd10 Disease
Ataxia, Tremor, Rigidity, Gastrointestinal dysmotility, Nasogastric tube feeding in infancy, Chor... ORPHA:391417
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina... ORPHA:276621
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Ataxia, Sinusitis, Pure red cell... OMIM:613179
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Diastasis recti, Feeding difficulties in infancy, High palate, Neonatal hypoglycemia ORPHA:231140
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti... OMIM:603552
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Prolonged QT interval, I... ORPHA:71212
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney ... OMIM:242900
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost... OMIM:614856
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Flexion contracture, Joint hyperflexibility,... ORPHA:75496
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... ORPHA:774
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Abdominal pain, Diarrhea, Hyperammonemia, Vomiting OMIM:620137
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Cardiomy... OMIM:251000
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Ataxia, Cardiac arrest, Anorexia, Spastic hemiparesis, Reye syndrome-lik... ORPHA:20
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Hepatic failure ORPHA:664
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Feeding difficulties, Hematochezia, Hypoa... OMIM:618183
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... ORPHA:69126
Endocardial Fibroelastosis
Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy ORPHA:2022
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia OMIM:603585
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Camptodactyly of finger, Intestinal malrotation, Joint stiffness, Flex... ORPHA:115
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypoglycemia, Feeding difficulties, Hyperglycinemia, Neonatal death, Int... OMIM:245400
Scholte Syndrome
Abnormal pyramidal sign, Kyphoscoliosis OMIM:300977
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Arima Syndrome
Hepatomegaly, Ataxia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal cor... OMIM:243910
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Limb muscle weakness, Skeletal muscle atrophy, Paralysis OMIM:612300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Athetosis, Del... OMIM:239300
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Kyphoscoliosis, Congenital diaphragmatic hernia, Clef... ORPHA:96170
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Feeding difficulties, Hypocalcemia, Poor suck, Butterfly vertebrae OMIM:607143
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Kyphoscoliosis OMIM:607831
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Osteomalacia, Joint stiffness, Hiatus hernia, Osteoporosis, ... ORPHA:1901
Warburg Micro Syndrome 3
Lower limb spasticity, Decreased muscle mass, Kyphoscoliosis, Inability to walk, Flexion contract... OMIM:614222
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... ORPHA:35173
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the vertebral column, Hypercalcemia OMIM:191420
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Maple Syrup Urine Disease
Ataxia, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Feeding diffi... OMIM:248600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc... OMIM:215250
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Crisponi/Cold-Induced Sweating Syndrome 1
Facial palsy, Kyphoscoliosis, Short neck, Feeding difficulties in infancy, Elbow flexion contract... OMIM:272430
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Hypoplastic spleen, Decreased skull ossification, Ankyloglossia OMIM:602361
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Decreased muscle mass, Cervical kyphosis, Craniosynostosis, Kyphoscoliosis, Ge... ORPHA:2953
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hemolytic anemia, Acute pancreatitis, Renal insufficiency, Recurrent urinary tract ... OMIM:619487
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Hypercalcemia, Fractures of the long bones, Paraparesis,... OMIM:602080
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Kyphosis, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis ORPHA:99014
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis ORPHA:87876
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Prolonged bleeding following procedure, Hypoglycemic seizures, Inflammation of the la... ORPHA:79259
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Constipation, Vomiting, Camptodactyly, Intrauter... ORPHA:412035
Carnitine Deficiency, Systemic Primary
Elevated circulating creatine kinase concentration, Congestive heart failure, Diarrhea, Hyperammo... OMIM:212140
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia, Hypocalcemia ORPHA:2238
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Polycythemia, Abnormal blood inorganic cation concentration, Portal hypertension, Gai... ORPHA:309854
Spondylometaphyseal Dysplasia, Kozlowski Type
Waddling gait, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion cont... OMIM:184252
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, Anemia... OMIM:608104
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Diabetes mellitus, Hype... ORPHA:97280
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Splenomegaly, Limb ataxia, Gait ataxia, Distal sensory imp... OMIM:616719
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Elevated circulating creatine kinase concentration, Thrombocyt... ORPHA:2785
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyram... ORPHA:363400
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Hemiparesis, Leukopenia, Hype... ORPHA:974
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Hypoglycemia, Elevated circulating creatine kinase concentration... OMIM:618838
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, H... ORPHA:758
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... OMIM:607594
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... OMIM:193700
Foodborne Botulism
Nausea and vomiting, Cerebral palsy, Paralysis, Abdominal pain, Diarrhea, Diaphragmatic paralysis... ORPHA:228371
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Prolonged prothrombin time, ... OMIM:616483
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Spastic ataxia, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Feeding difficulti... ORPHA:300570
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Recurrent otitis media, Male infertility OMIM:618948
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Nausea and vomiting, Cerebral vasculitis, Paralysis, Leukocytosis, Thrombocytopenia ORPHA:83601
Porphyria, Acute Intermittent
Tachycardia, Paralysis, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vo... OMIM:176000
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... ORPHA:254881
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, Increased susce... OMIM:610968
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Cardiom... OMIM:604250
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Protruding tongue, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, H... OMIM:301040
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... ORPHA:54251
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytos... ORPHA:3226
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... ORPHA:157794
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Leukocytosis, Chronic kidney disease, Oliguri... ORPHA:340
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Lymphocytic inters... OMIM:618495
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ... OMIM:184100
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Ataxia, Facial palsy, Kyphosis, Voc... OMIM:211530
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Ataxia, Proteinuria, Splenomegaly, Anemia, Hematuria, Thrombocytopenia ORPHA:77261
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... OMIM:232240
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... ORPHA:79233
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Poor appetite, Abnormal sac... ORPHA:324964
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Orchitis, Pustule, Hem... ORPHA:761
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Shashi-Pena Syndrome
Hypoglycemia, Feeding difficulties in infancy, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 ... OMIM:617190
Zygomycosis
Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Abdominal pain, Hemat... ORPHA:73263
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia, Elbow contracture, Rigidity, Abdominal distention, Feeding difficulties, Gastroesop... OMIM:620275
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Diabetes mellitus, Hype... ORPHA:97283
Double Outlet Right Ventricle
Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Heart murmur, Fee... ORPHA:3426
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Leukopenia, Nephr... OMIM:617303
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypoglycemia, Sudden cardiac death, Hemiplegia/hemiparesis, Transient hy... ORPHA:156
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis... OMIM:300755
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria ORPHA:284400
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... ORPHA:98763
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin concentration,... OMIM:618963
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Hypokalemia, Periodic paralysis OMIM:170400
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Essential Thrombocythemia
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenom... ORPHA:3318
Urachal Cyst
Abdominal mass, Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Urachus fistula, Hematuria ORPHA:488
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Ataxia, Neonatal hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, ... ORPHA:572798
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Incoordination, Ataxia, Hypoglycemia, Diar... ORPHA:90062
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... OMIM:620300
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Charcot-Marie-Tooth Disease, Type 4A
Distal amyotrophy, Inability to walk by childhood/adolescence, Kyphoscoliosis OMIM:214400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... OMIM:606693
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Increased proinsulin:insulin ratio, Recurrent hypoglycemia, Hyperphospha... ORPHA:94086
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia ORPHA:638
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Vaginal neoplasm, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease,... ORPHA:1018
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Vertebral wedging, Firm muscles, Kyphoscoliosis OMIM:255710
Lcat Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ... ORPHA:650
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... OMIM:231070
Renal Hypodysplasia/Aplasia 1
Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re... OMIM:191830
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Lower limb muscle weakn... OMIM:600363
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated ca... OMIM:248360
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Gitelman Syndrome
Prolonged QT interval, Ataxia, Paralysis, Abdominal pain, Rhabdomyolysis, Ventricular tachycardia... OMIM:263800
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Kyphosis,... OMIM:177850
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina... ORPHA:29072
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Tip-toe gai... ORPHA:447760
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Constipation, Dysphagia ORPHA:230800
Joint Laxity, Short Stature, And Myopia
Kyphoscoliosis, Cervical kyphosis, Joint hypermobility OMIM:617662
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephrocalcinosis, Renal tubular acidos... OMIM:613404
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossification, Generalized joint laxity... ORPHA:93360
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Feedin... OMIM:608836
22Q11.2 Deletion Syndrome
Short neck, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the thymus, Gastroe... ORPHA:567
Solitary Fibrous Tumor
Low back pain, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Recurrent hypoglycem... ORPHA:2126
Stiff-Person Syndrome
Exaggerated startle response, Lumbar hyperlordosis, Tachycardia, Diabetes mellitus, Rigidity, Opi... OMIM:184850
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Feeding difficulties in infancy, Hyperkalemia, Vomiting OMIM:240200
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Intrauterine growth retardation, Hypercalcemia, Craniosynostosis OMIM:614732
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia OMIM:261650
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Ataxia, Mediastinal lymphadenopathy, Hematuria, Arthritis, Par... ORPHA:397
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Hyperphenylalanin... OMIM:233910
Galactokinase Deficiency
Speech apraxia, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol... ORPHA:79237
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Thoracic kyphoscoliosis, Spinal canal stenosis, Scoliosis, Fasting hypoglycemia, Achalasia, Cervi... ORPHA:436174
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... ORPHA:436271
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Scoliosis, Difficulty walking ORPHA:306669
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorr... OMIM:616507
Cystic Fibrosis
Osteopenia, Meconium ileus, Malabsorption, Rectal prolapse, Osteoporosis, Gastroesophageal reflux... ORPHA:586
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... OMIM:619028
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Poor appetite, Paralysis, Diarrhea, Rickets, Increased susceptibi... ORPHA:18
Pseudohypoaldosteronism Type 2
Nausea and vomiting, Hypertension, Hyperkalemia, Periodic paralysis ORPHA:757
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Narrow palate, Distal... OMIM:616505
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Addison Disease
Normocytic anemia, Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Hypoglycemia, Hype... ORPHA:85138
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hypoglycemia OMIM:614741
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Tremor, Leukocytosis, Choreoathetosis, Abnormality of the calf ... ORPHA:206594
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... ORPHA:454887
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Diarrhea, Insulin resistance, Elevated circu... ORPHA:230
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Glycosuria, Amin... OMIM:220110
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Unsteady gait, Flexion contracture, Generalized limb muscle atrophy, Leg ... ORPHA:137898
Nail-Patella Syndrome
Acroparesthesia, Renal insufficiency, Proteinuria, Abnormality of the kidney, Impaired pain sensa... ORPHA:2614
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Cleft palate, Heart murmur, Anemia, Intracranial hemorrh... ORPHA:163979
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dystonia, Facial-lingual fasciculations, B... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dystonia, Facial-lingual fasciculations, B... ORPHA:276241
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph... OMIM:209950
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Macrocytic anemia, Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Leu... ORPHA:27
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski... ORPHA:900
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Glycogen Storage Disease Ia
Abnormal bleeding, Decreased muscle mass, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Hyper... OMIM:232200
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Diabetes mel... ORPHA:249
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, Rhabdomyolysis,... OMIM:212138
Andersen-Tawil Syndrome
Joint laxity, Periodic hyperkalemic paralysis, Prolonged QT interval, Bidirectional ventricular e... ORPHA:37553
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Feeding difficulties, Dysphagia, EMG: myopathic abnormalities, Periodi... ORPHA:684
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Broad-based gait, Decreased muscle mass, Recurrent fract... OMIM:309583
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, Fasciculatio... OMIM:313200
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Bloody diarrhea, Hypertonia, Hemolytic anemia, Vasculitis, Hematochezia, Anem... OMIM:615846
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Torticollis, Multiple joint contractures, Congenital kyphoscoliosis, Recurrent fractu... ORPHA:536467
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Choreoathetosis, Neutropenia, Pancreatit... ORPHA:79312
Basilicata-Akhtar Syndrome
Short neck, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Progressive spas... OMIM:301032
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Periodic paralysis, Rhabdomyolysis, Hypokalemia, Palpitations OMIM:188580
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia, Periodic paralysis OMIM:267200
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture... ORPHA:2020
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia, Anemia OMIM:618182
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Co... OMIM:239200
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, A... ORPHA:2585
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia, Feeding difficulties OMIM:616111
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lympha... ORPHA:342
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ... OMIM:235200
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi... ORPHA:97279
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Crimean-Congo Hemorrhagic Fever
Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Leukocy... ORPHA:99827
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... OMIM:277900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical insta... OMIM:617425
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemo... ORPHA:25
Peroxisome Biogenesis Disorder 5B
Joint laxity, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dy... OMIM:614867
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Elevated cir... OMIM:201475
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, High, narrow palate, Feeding difficulties, High palate, Camptodactyly, Intrauteri... OMIM:612513
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Poor appetite, Elevated circulating creatinine concentration, Hypovol... ORPHA:411634
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat... OMIM:614307
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Unsteady gait, Abnormality of the calf musculature... ORPHA:600
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Chst3-Related Skeletal Dysplasia
Waddling gait, Kyphoscoliosis, Flexion contracture, Abnormal form of the vertebral bodies, Scolio... ORPHA:263463
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... ORPHA:537
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Thoracolumbar scoliosis, Kyphoscoliosis, Bruising ... ORPHA:230851
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Anorexia, Tr... ORPHA:3008
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os... ORPHA:90291
Spinal Arteriovenous Metameric Syndrome
Paraparesis, Abnormality of the vertebral column, Congestive heart failure, Kyphoscoliosis ORPHA:53721
Monosomy 18P
Generalized dystonia, Kyphoscoliosis, Short neck, Cleft palate, Hypertension ORPHA:1598
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re... ORPHA:254892
Tay-Sachs Disease
Skeletal muscle atrophy, Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigi... ORPHA:845
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi... ORPHA:36426
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Poor suck, Hypoglycemia OMIM:615026
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus OMIM:616113
D-Glyceric Aciduria
Hypoglycemia, Spastic tetraplegia, Nonketotic hyperglycinemia, Opisthotonus, Gastroesophageal ref... OMIM:220120
Isotretinoin-Like Syndrome
Cleft palate, Feeding difficulties, Gastroesophageal reflux, Hypocalcemia, Intrauterine growth re... ORPHA:2306
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Behçet Disease
Gastrointestinal hemorrhage, Aortic regurgitation, Myositis, Nausea and vomiting, Ataxia, Pericar... ORPHA:117
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Hand muscle weakness OMIM:162500
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ataxia, Hypoglycemia, Pyloric stenosis, Submucous cleft hard pal... ORPHA:457279
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tremor, Kyphosis, Feeding difficulties in infancy, Gait ataxia, Chronic constipati... ORPHA:476126
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Hypoargininemia, Spastic... OMIM:620358
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, T lymphocytopenia, B lymphocyt... ORPHA:217390
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la... OMIM:618108
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Ataxia, Kyphoscoliosis, Inability to walk, Cleft palate, Knee flex... ORPHA:488642
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... ORPHA:206443
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Kyphoscoliosis, Advanced ossification of carpal bones, Cleft palate, In... OMIM:615349
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyopathy, Feeding diffi... ORPHA:445038
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Hypoglycemia, Hype... ORPHA:95409
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Protruding tongue, Chorea, Torsion ... ORPHA:53351
Carpenter Syndrome
Kyphoscoliosis, Polysplenia, Craniosynostosis ORPHA:65759
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Micropenis, Abnormal natural... OMIM:615966
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Ataxia-Telangiectasia
Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Telangiectasia of the skin, Tremor, Gait dist... ORPHA:100
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Osteoporosis, Severe intrauterine growth retardation, Intrauter... ORPHA:73272
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Abnormal morphology ... ORPHA:538
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, High ... OMIM:262190
Intellectual Developmental Disorder, Autosomal Dominant 45
Cerebral palsy, Chorea, Heart murmur, Myoclonus, Pulmonic stenosis, Scoliosis, Neonatal hypoglycemia OMIM:617600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Gonadal dysgenesis, Abn... OMIM:611926
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Paralysis, Abnormality of the s... ORPHA:2072
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Cleft soft palate, Eosinophilic infiltration of the esop... OMIM:615582
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Short neck, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hemivertebr... OMIM:302960
Temple Syndrome
Feeding difficulties in infancy, Feeding difficulties, Recurrent hypoglycemia, Type II diabetes m... ORPHA:254516
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Saccharopinuria
Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abnormality of circulatin... ORPHA:3124
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Skeletal muscle atrophy, Dystonia, Hypoglycemia, Unsteady gait, Flexion c... ORPHA:17
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dystonia, Facial-lingual fasciculations, B... ORPHA:276244
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased muscle mass, Inability to walk, Vocal cord paralysis, Intrinsic hand ... OMIM:615490
Lujo Hemorrhagic Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Microscopic hematuria, Myocarditis, Leuk... ORPHA:319213
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic ... ORPHA:534
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Villous atrophy, Pericarditis, Ataxia, Tremor, Kyphosis, Diarrhea, Flexion contractur... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Lower limb muscle weakness, Hypoglycemia OMIM:617950
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... ORPHA:572
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Megaloblastic anemia, Pulmonary ... ORPHA:79282
Congenital Bile Acid Synthesis Defect Type 4
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rhabdomyolysis, Hematochezia,... ORPHA:79095
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Telangiectasia of the skin, Hypoglycemia, Hyperlordosis, Hypoplasia of the odontoid p... OMIM:616007
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Acute hyperammonemia, Cerebral palsy, Hypoglycemia, Hyperammonemia, Opis... OMIM:210210
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Prolonged bleeding time, Recurrent fractures, Decreased calvarial ossification, Platy... OMIM:616229
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cystinuria
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:214
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Tachycardia, Periodic paralysis OMIM:613239
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Feeding difficulties, Gastroesophageal reflux, Constipation, High pal... OMIM:615803
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... OMIM:619355
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... OMIM:612716
Ataxia-Telangiectasia
Sinusitis, Female hypogonadism, Ataxia, Bronchiectasis, Acute lymphoblastic leukemia, T lymphocyt... OMIM:208900
Ohdo Syndrome
Cryptorchidism, Small scrotum, Proteinuria OMIM:249620
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Macrocytic anemia, Tremor, Dysmetria, Intrauterine growth retardation, H... OMIM:615578
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria ORPHA:86818
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Gastroesophageal reflux, Decerebrate rigidity, Ata... ORPHA:354
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Tremor, Proximal amyotrop... OMIM:605355
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Gait ataxia, Nephrotic syndrome, Normochromic a... OMIM:254900
Pseudohypoparathyroidism, Type Ia
Short neck, Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Prolonged QT interval, Scapular winging, Bidirectional ventricular ectopy, Periodic... OMIM:170390
Familial Isolated Hyperparathyroidism
Osteopenia, Abdominal symptom, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis ORPHA:99879
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati... OMIM:615356
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital kyphoscoliosis, Kyphoscoliosis, Antenatal intrace... ORPHA:536545
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Feeding difficulties in infancy, Osteolytic defects of the middle... ORPHA:765
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Intrinsic hand muscle atrophy, Increased susceptibility to fractures, Dysphagia... OMIM:304700
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel... OMIM:619510
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... ORPHA:293964
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Dysphagia,... OMIM:616795
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hypercalcemia,... ORPHA:913
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventricular tachycard... OMIM:600649
Distal Limb Deficiencies-Micrognathia Syndrome
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Camptodactyly of finger, Kyphoscoliosis OMIM:610756
Fanconi-Bickel Syndrome
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hepatocellular c... ORPHA:2088
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Inability to wa... OMIM:312080
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Kyphoscoliosis, Nasogastric tube feeding in infancy, Platyspondyly, Abnormalit... ORPHA:93316
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, ... OMIM:617093
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Lymphopenia, Scoliosis ORPHA:391307
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplast... OMIM:300519
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentration, Sudden cardiac dea... OMIM:614921
Post-Traumatic Pituitary Deficiency
Osteopenia, Osteoporosis of vertebrae, Hypoglycemia, Hypotension ORPHA:95619
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Feeding diffi... ORPHA:99657
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Long uvula, Hypertriglyceridemia, Sacral dimple, Kyphoscoliosis, ... ORPHA:536532
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:617145
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren... OMIM:612444
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Igg4-Related Thyroid Disease
Sialadenitis, Vocal cord paralysis, Hypocalcemia, Dysphagia ORPHA:64744
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Splenomegaly, Flexion contracture, Pulmonic stenosis, Pulmonary ... OMIM:608149
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Tricuspid regurgitation, Ovoid vertebral bodies, Kyphoscoliosis, Joint stif... OMIM:253200
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Chronic otitis media, Bronchiectasis, Recurrent sinusitis OMIM:300991
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Kyphoscoliosis, Congestive heart failure, ... OMIM:225400
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Feeding difficulties ORPHA:3006
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign,... ORPHA:240071
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... OMIM:187800
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hepatosplenomegaly, Steatorrhea, Exocrine pancr... OMIM:219700
Alg12-Cdg
Hyponatremia, Intestinal malrotation, Feeding difficulties, Prolonged prothrombin time, Camptodac... ORPHA:79324
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Hyperlordosis, Thoracic platys... ORPHA:457395
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... ORPHA:39041
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Feeding difficulties in infancy, Opisthotonus, Vomiting OMIM:210200
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Wagro Syndrome
Proteinuria, Hypoplastic female external genitalia, Impaired social interactions, Nephroblastoma,... OMIM:612469
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Feed... ORPHA:442835
Glucose-Galactose Malabsorption
Hematuria, Renal insufficiency, Nephrolithiasis ORPHA:35710
Pierson Syndrome
Skeletal muscle atrophy, Retinal hemorrhage, Feeding difficulties, Hypertension, Tube feeding, Hy... OMIM:609049
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration... OMIM:255125
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Kyphosis, Rectal prolapse, Narrow palate, Lumbar kyphosi... OMIM:303600
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Poor appetite, Hematemesis, Bowel urgency... ORPHA:100075
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Paresthesia, Lipiduria, Left ventricula... OMIM:301500
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Hypoglycemia, Abnormal pyramidal sign, Proximal muscle weakness in lower limbs, Type II d... ORPHA:453533
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Inability to walk, Rigidity, H... OMIM:618877
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Flexion contracture, Knee flexion contracture, High pala... OMIM:619503
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal b... OMIM:271510
Progressive Pseudorheumatoid Arthropathy Of Childhood
Waddling gait, Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentr... ORPHA:1159
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Short neck, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux, High p... OMIM:617157
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the musculature of the lower limbs, Babinski sign, Vocal cord paralysi... ORPHA:268882
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... ORPHA:728
Donnai-Barrow Syndrome
Bicornuate uterus, Proteinuria, Abnormality of the uterus ORPHA:2143
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, High palat... OMIM:143095
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dysphagia, Ac... OMIM:619738
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia,... ORPHA:529665
Glutaric Acidemia I
Hypoglycemia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia, Elevated circu... OMIM:231670
Fanconi-Bickel Syndrome
Hypouricemia, Osteomalacia, Poor appetite, Malabsorption, Abdominal distention, Rickets, Hypophos... OMIM:227810
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Kyphoscoliosis, Supraventricular tachycardia with an accessory connectio... ORPHA:404443
Felty Syndrome
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Splenome... ORPHA:47612
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Waddling gait, Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, K... OMIM:614557
Macs Syndrome
Joint laxity, Prolonged bleeding time, Osteoporosis, High palate, Recurrent aphthous stomatitis, ... OMIM:613075
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Cryptorchidism, Uveitis, Conjunctivitis, ... ORPHA:90321
De Barsy Syndrome
Osteopenia, Decreased muscle mass, Kyphoscoliosis, Generalized joint laxity, Athetosis, Progressi... ORPHA:2962
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasti... ORPHA:2298
Tetanus
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Bowel incontinence, ... ORPHA:3299
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Thromboc... OMIM:619525
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Feeding ... OMIM:251880
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Malabsorption, Splenomegaly, Pyloric stenosis, Hypocal... ORPHA:2136
Monosomy 13Q34
Epistaxis, Hypercalcemia, Insulin resistance, Hematochezia, Prolonged prothrombin time, Pulmonic ... ORPHA:96168
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Hypoglycemia, Abnormal large inte... ORPHA:109
Alexander Disease
Osteopenia, Clonus, Short neck, Tremor, Chorea, Abnormal pyramidal sign, High palate, Ataxia, Fac... ORPHA:58
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hyperkinetic movements, H... ORPHA:73224
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia, Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Fastin... ORPHA:348
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Broad-based gait, Dystonia, Ataxia, Hypoglycemia,... OMIM:256810
Primary Hyperoxaluria
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... ORPHA:416
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:228305
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Involuntary movements, Inability to w... ORPHA:3063
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Loss of ambulatio... OMIM:607694
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Tremor, Splenome... OMIM:615512
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Tremor, Generalized joint laxity, Increased variability in muscle fiber diameter, Dysmetria, Incr... ORPHA:502423
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... OMIM:612953
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Recurrent otitis media ORPHA:2728
Laron Syndrome
Hypercholesterolemia, Osteoarthritis, Hypoglycemia ORPHA:633
Fanconi Anemia, Complementation Group O
Neonatal death, Small thenar eminence, Rectal atresia, Anal atresia OMIM:613390
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa... ORPHA:91500
Monosomy 18Q
Left-to-right shunt, Kyphoscoliosis, Congestive heart failure, Poor coordination, Choreoathetosis... ORPHA:1600
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97278
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Dystonia, Elevated circulating creatine kinase concentration, Elevat... OMIM:606002
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Vipoma
Nausea and vomiting, Diabetes mellitus, Hypercalcemia, Anorexia, Malabsorption, Poor appetite, Se... ORPHA:97282
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Villous atrophy, Anorexia, Malabsorption, Thrombocytopenia, H... OMIM:557000
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Leptospirosis
Nausea and vomiting, Pericarditis, Anorexia, First degree atrioventricular block, Abdominal pain,... ORPHA:509
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Kyphoscoliosis OMIM:620075
Tetrasomy 15Q26
Intrauterine growth retardation, High palate, Kyphoscoliosis, Camptodactyly OMIM:614846
Isolated Complex I Deficiency
Increased serum pyruvate, Diabetes mellitus, Ataxia, Hypoglycemia, Feeding difficulties, Vomiting... ORPHA:2609
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Calcium nephrolithiasis, Decreased fertility, Bronchiectasis, Gonadal calcification... ORPHA:60025
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Kyphoscoliosis OMIM:163200
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... ORPHA:79403
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hypertriglyceridemia, Hypoglycemia, Joint hypermobility, Neonatal hypoglycemia,... OMIM:619418
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Short ... OMIM:608779
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hyperkalemia, Hypertension OMIM:145260
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemi... ORPHA:93325
Smith-Kingsmore Syndrome
Hypoglycemia, Diastasis recti, Thrombocytopenia, Feeding difficulties OMIM:616638
Larsen-Like Syndrome
Joint laxity, Kyphoscoliosis, Cleft palate OMIM:608545
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... OMIM:620366
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Waddling gait, Hypercalcemia, Knee flexion contracture, Hypophosphat... OMIM:156400
Bachmann-Bupp Syndrome
Lower limb spasticity, Hypoglycemia, Feeding difficulties in infancy, High palate, Hyperbilirubin... OMIM:619075
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Marshall-Smith Syndrome
Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu... OMIM:602535
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Calvarial osteoscler... OMIM:617994
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Feeding difficulties, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Hypo... OMIM:618329
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Cardiomyopathy, Dy... OMIM:222300
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Proteinuria, Splenomegaly, Osteoarthritis, Hep... ORPHA:355
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hypoglycemia, Abdominal pain, Malnutrition, Bicarbonaturia, Glycosur... OMIM:229600
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Hypoglycemia, Short neck, Inability to walk by childhood/adolescence, Choreoathetosi... OMIM:620224
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility, Finger joint hypermobility, Hyperextensibility ... ORPHA:49042
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Abnormal ... ORPHA:536471
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi... OMIM:617675
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Inhalational Botulism
Nausea and vomiting, Paralysis, Diarrhea, Xerostomia, Constipation ORPHA:254504
Multiple Endocrine Neoplasia Type 2
Joint laxity, Aganglionic megacolon, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Abdominal dist... ORPHA:653
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria OMIM:619685
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ren... OMIM:227650
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Hypoglycemia, Congenital diaphragmatic hernia, Short neck, Feedi... ORPHA:2162
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Kyphosis, Slurred speech, Abnormal form of... ORPHA:812
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia, Vomit... OMIM:275350
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Intestinal malrotation, Tremor, Abnormality of the sp... ORPHA:94063
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Feeding difficulties in infancy, Hypoglycemia, Gastrostomy tube feeding in infancy ORPHA:231137
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi... OMIM:615387
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Diarrhea, T lymphocy... ORPHA:83471
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia... ORPHA:97261
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypouricemia, Hypoglycemia, Rickets, Glycosuria, Hypophosphatemia OMIM:616026
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Neonatal hypoglycemia, Increased blood urea nitroge... OMIM:223360
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Arthritis, Left ... ORPHA:324
Hypercalcemia, Infantile, 1
Vomiting, Hypercalcemia OMIM:143880
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Recurrent otitis media, Lymphopenia OMIM:605309
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Decreased proportion ... OMIM:616005
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai... ORPHA:79430
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Intestinal malrotation, Kyphoscoliosis, Short neck, Tall lumbar vertebr... OMIM:102500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Ataxia, Paralysis, Osteoporosis, Hypertonia, Vomiting, Myoclonus, Scoliosi... OMIM:203700
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... ORPHA:381
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie... OMIM:255120
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... ORPHA:35078
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Gingival bleeding, Neutro... ORPHA:88
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Kyphoscolios... OMIM:300967
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... ORPHA:2260
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Abnormal circulating selenium concent... ORPHA:89842
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Rhabdomyolysis, Ventricular tachycardia, Hypera... ORPHA:159
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Vomiting, Glycosuria, Neonatal death, Elevated circulating glutaric acid concentrat... OMIM:231680
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i... ORPHA:90068
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par... OMIM:616586
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Re... ORPHA:101096
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A... OMIM:616100
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Dystonia, Vocal cord paralysis, Gastroesophageal reflux, Myoclonus, Scoliosis, Dysphagia, Spastic... ORPHA:500144
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:330001
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Limitation of joi... ORPHA:457359
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Amme Complex
Hematuria, Elliptocytosis OMIM:300194
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Premature ovarian insufficiency, Hypospadias, Hypergonadotropic hypogon... ORPHA:2959
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepa... OMIM:611126
Reynolds Syndrome
Gastrointestinal hemorrhage, Calcinosis, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa... OMIM:613471
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovarie... ORPHA:2348
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Familial Glucocorticoid Deficiency
Hyponatremia, Ketotic hypoglycemia, Anorexia, Diarrhea, Hyperkalemia, Tetraplegia, Episodic abdom... ORPHA:361
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Acrootoocular Syndrome
Small hypothenar eminence, Kyphoscoliosis, High, narrow palate, Small thenar eminence, Abnormalit... ORPHA:2980
Osteogenesis Imperfecta, Type Xx
Kyphoscoliosis, Multiple prenatal fractures, Narrow palate, High palate, Intrauterine growth reta... OMIM:618644
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Chronic constipation, ... OMIM:618060
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:170500
Sotos Syndrome
Joint laxity, High, narrow palate, Poor coordination, Narrow palate, Feeding difficulties, Glucos... OMIM:117550
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, I... OMIM:608233
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Post... ORPHA:2089
Digeorge Syndrome
Pilonidal sinus, Splenomegaly, High, narrow palate, Cleft palate, Anemia, Hemiparesis, Hypoplasia... OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ataxia, Hypoglycemia, Feeding difficulties in infancy, Splenomegaly, Rag... OMIM:252010
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaundice, Hepat... ORPHA:905
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Oculodentodigital Dysplasia
Ataxia, Camptodactyly of finger, Hypoglycemia, Cranial hyperostosis, Cleft palate, Abnormal form ... ORPHA:2710
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy... OMIM:271640
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... ORPHA:411709
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hypoglycemia, Hyperammonemia, Vomiting, Hyperglycemia OMIM:615453
Progressive Supranuclear Palsy
Dystonia, Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradyki... ORPHA:683
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Aganglionic megacolon, Kyphoscoliosis, Short neck, Vocal cord paralysis,... ORPHA:798
Cranioectodermal Dysplasia 1
Joint laxity, Sagittal craniosynostosis, High, narrow palate, Osteoporosis, High palate, Hypocalc... OMIM:218330
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Craniosynostosis, Spastic tetraparesis, Tremor, Spastic... ORPHA:2203
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... OMIM:619377
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Portal hypertension, Hypersplenism... ORPHA:731
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentratio... OMIM:614298
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Joint stiffness, Tremor, Inability to walk, Kyphosis, ... OMIM:617988
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Myoglobinuria OMIM:602199
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Diastasis recti, Gait disturbance, Protuberant abdomen, Intestinal polyp, Ne... ORPHA:457485
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Proxi... OMIM:606071
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Intrauterine growth reta... ORPHA:2976
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Short neck, Limitation of joint mobility, Feeding difficulties, ... ORPHA:254519
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Paralysis, Rigidity, Bone cyst, Osteolysis, Tetraplegia, Hemiparesis, ... ORPHA:2396
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... OMIM:615751
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Immunodeficiency 40
Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumo... OMIM:616433
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... ORPHA:505248
Yellow Fever
Elevated circulating creatine kinase concentration, Vomiting, Internal hemorrhage, Nausea, Abnorm... ORPHA:99829
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Severe intrauterine growth... OMIM:609069
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto... ORPHA:391487
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Vomiting, Hypercalcemia OMIM:239199
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Broad-based gait, Ataxia, Protruding tongue, Tremor, Feeding di... ORPHA:98794
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Decreased muscle mass, Dystonia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, ... OMIM:234200
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Eryth... ORPHA:540
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess... OMIM:612541
Severe Oculo-Renal-Cerebellar Syndrome
Choreoathetosis, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hypoglycemia, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261680
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur... OMIM:255995
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Diabetes mellitus, Kyphoscoliosis, Cleft palate, Camptodactyly, Arthrogr... OMIM:601701
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:277440
Congenital Alpha2-Antiplasmin Deficiency
Hematuria ORPHA:79
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, High, narrow palate, Nasogastr... ORPHA:369837
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Lumbar hyperlordosis, Distal amyotrophy, Steppage gait, Scoliosis, Limb muscl... OMIM:601152
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P... ORPHA:436159
Silver-Russell Syndrome
Decreased muscle mass, Insulin resistance, Feeding difficulties, Recurrent hypoglycemia, Constipa... ORPHA:813
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Cleft soft palate, Kyphoscoliosis, Cleft palate, Camptodactyly, Calvarial osteoscl... OMIM:616331
Esophageal Atresia
Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anoma... ORPHA:1199
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria OMIM:251900
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Myoglobinuria, Acute kidney injury ORPHA:57
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Dystonia, Ataxia, Oral-pharyngeal dysphagia, Short neck, High, narrow ... OMIM:300966
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Ane Syndrome
Multiple joint contractures, Generalized amyotrophy, Kyphoscoliosis ORPHA:157954
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... ORPHA:90035
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Reactive hypoglycemia, Malabsorption, Diarrhea, Hypoinsulinemia OMIM:600955
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Aganglionic megacolon, Kyphoscoliosis, High, narrow palate, Rectal prolapse... OMIM:309800
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Deeah Syndrome
Decreased hemoglobin concentration, Cervical hemivertebrae, Decreased heart rate variability, Neo... OMIM:619004
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypophosphatemia OMIM:600740
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... ORPHA:464329
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hypolysinemia, Recurrent fractures, Protein avoidance, Splenomegaly, Dia... OMIM:222700
Mucopolysaccharidosis Type 3
Flexion contracture, Abnormal pyramidal sign, Atrioventricular block, Abnormal form of the verteb... ORPHA:581
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Poor appetite, Normochromic anemia, Constipa... ORPHA:91355
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Agel Amyloidosis
Ataxia, Proteinuria, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca, Abnormal spleen ... ORPHA:85448
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Decreased basophil count... OMIM:618394
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V... OMIM:122470
You-Hoover-Fong Syndrome
Kyphoscoliosis, Ataxia, Cleft palate, Spasticity OMIM:616954
Melas
Hypoparathyroidism, Hypogonadotropic hypogonadism, Ataxia, Proteinuria, Focal segmental glomerulo... ORPHA:550
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Short neck, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency an... ORPHA:261584
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope... OMIM:615607
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Osteoporosis, Myopathy, Muscular dystrophy... OMIM:307030
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Xfe Progeroid Syndrome
Renal insufficiency, Ascites, Proteinuria, Premature ovarian insufficiency OMIM:610965
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephro... OMIM:616084
Ddost-Cdg
Hepatic steatosis, Nephrotic range proteinuria ORPHA:300536
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100082
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dy... OMIM:614381
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Foot dorsiflexor wea... OMIM:214500
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:259900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Neutropenia, Feeding difficulties, Hypertonia, Bradycardia, Dysphagia, ... OMIM:617248
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro... OMIM:249420
Silver-Russell Syndrome 2
Intrauterine growth retardation, Neonatal hypoglycemia OMIM:618905
Bardet-Biedl Syndrome 20
Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Speech apraxia, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ata... ORPHA:466791
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... ORPHA:125
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Brady... OMIM:615530
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Feeding difficulties, Decreased circulating free fatty acid level, Recurrent hypoglycemia, Hyperi... ORPHA:79644
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Hamartomatous stomach polyps, Irregular ossification of hand bo... OMIM:109400
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Poor appetite, Feeding difficulties in infancy, High, narrow palate, Insul... ORPHA:96182
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis ORPHA:96190
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease OMIM:613148
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Diarrhea, Dilated cardiomyopathy, Tetraplegia, Vomit... OMIM:610768
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Pituitary Apoplexy
Hyponatremia, Nausea and vomiting, Hypoglycemia, Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Hereditary Fructose Intolerance
Abdominal pain, Reactive hypoglycemia, Abdominal distention, Diarrhea, Hypermagnesemia, Constipat... ORPHA:469
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hypoglycemia, Feeding difficulties ORPHA:5
Donohue Syndrome
Skeletal muscle atrophy, Abdominal distention, Hyperinsulinemia, Fasting hypoglycemia, Postprandi... OMIM:246200
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Diarrhea, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Cardiomy... OMIM:105210
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Ataxia, Portal hypertension, A... OMIM:615688
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Dysphagia ORPHA:142
Incontinentia Pigmenti
Eosinophilia, Kyphoscoliosis, Leukocytosis, Hemivertebrae, Retinal hemorrhage, Spasticity OMIM:308300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Decreased mitochondrial complex III activity in liver tissue, Ataxia, Hypoglyce... OMIM:124000
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Gastrointestinal dysmotility, Chorea, Abnormal pyram... ORPHA:2131
Glioblastoma
Paralysis ORPHA:360
Kniest Dysplasia
Hip contracture, Short neck, Delayed epiphyseal ossification, Limitation of joint mobility, Cleft... OMIM:156550
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Reduced bone mineral density, Tip-toe gait, Gait distu... ORPHA:83629
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphad... ORPHA:158061
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Broad-based gait, Short neck, High palate, Constipation, Hypocalcemia, Dystonia, Bi... OMIM:620330
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Cryptorchidism, Splenomegaly, Irregular m... OMIM:216400
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma OMIM:610163
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia ORPHA:199296
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... ORPHA:33001
Charcot-Marie-Tooth Disease Type 4C
Neuropathic spinal arthropathy, Tongue atrophy, Frequent falls, Inability to walk, Gait ataxia, D... ORPHA:99949
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia, Malabsorption, Chronic diarrhea, Decreased proportion of class-switched memory B ce... OMIM:233600
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Nausea and vomiting, Elevated hemoglobin A1c, Malabsorption, Tremor, Babinski sign, Feeding diffi... OMIM:616539
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Vomiting, Prominent U... ORPHA:466677
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Craniofacioskeletal Syndrome
Intrauterine growth retardation, Hypocalcemia, Cleft palate OMIM:300712
Johanson-Blizzard Syndrome
Joint laxity, Colonic diverticula, Diabetes mellitus, Increased VLDL cholesterol concentration, M... OMIM:243800
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Hypocalcemia, Cleft palate OMIM:192430
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Bronchiectasis, Chronic sinusitis, Recurrent otit... ORPHA:244
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume... OMIM:617718
Kawasaki Disease
Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundi... ORPHA:2331
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Vocal cord paralysis, Jaw claudication, Fee... ORPHA:221098
Fanconi Anemia, Complementation Group C
Pancytopenia, Flexion contracture, Reticulocytopenia, Anterior wedging of T12, Anemia, Neutropeni... OMIM:227645
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Cleft palate, Osteolytic defects of the... OMIM:309350
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Intracranial hemorrhage, Ischemic stroke, Oculomotor apraxia, Neonata... ORPHA:447788
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Osteomyelitis, Hypospadias, Ataxia, Abnormal abdomen morphology, Jaundice, Hematur... OMIM:619475
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Tremor, Feeding difficulties in infancy, Hyperammonemia, An... OMIM:251100
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time, Decreased serum bile acid concentration, Hyperbilirubin... OMIM:214950
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Hyperkalemia, Hypoglycemia OMIM:614736
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis... OMIM:244400
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Distal Deletion 12Q
Diabetes mellitus, Kyphoscoliosis, Short neck, Maturity-onset diabetes of the young, High, narrow... ORPHA:96149
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Aminoaciduria, Albumi... OMIM:214100
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Tremor, Hypoplastic vertebral bodies, Hypertonia, Ataxia, Pulmonic stenosis, Truncal ... ORPHA:3455
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Recurrent urinary tract infections,... OMIM:251260
Acute Intermittent Porphyria
Hyponatremia, Back pain, Proximal muscle weakness in upper limbs, Nausea and vomiting, Tachycardi... ORPHA:79276
Campomelic Dysplasia
Joint laxity, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossification... OMIM:114290
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Diarrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Hyperbilirubine... OMIM:613812
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatospleno... OMIM:260920
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Hypochromic microcytic anemia, Anemia, Mild proteinuria OMIM:619147
African Trypanosomiasis
Tremor, Choreoathetosis, Vomiting, Nausea, Abnormal EKG, Abnormal central motor function, Paralys... ORPHA:3385
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... OMIM:619381
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Constipation, Dysphagia, ... OMIM:168600
Silver-Russell Syndrome Due To A Point Mutation
Feeding difficulties in infancy, Intrauterine growth retardation, Hypoglycemia, Cleft palate ORPHA:397590
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Hypogonadism, Decreased testicular size OMIM:201100
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... ORPHA:2552
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hypersplenism, Hemate... ORPHA:480520
Hardikar Syndrome
Vomiting, Cleft soft palate, Thoracolumbar scoliosis, Portal hypertension, Abdominal pain, Osteop... OMIM:301068
Mercury Poisoning
Tachycardia, Anorexia, Tremor, Episodic abdominal pain, Hypertension, Hypokalemia, Hypotension, D... ORPHA:330021
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri... ORPHA:244242
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Laryngeal Abductor Paralysis
Vocal cord paralysis, Dysphagia OMIM:150260
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Poor appetite, Inability to walk, Gastrointestinal dysmotility, Vo... OMIM:617799
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Hypercalcemia, Anorexia, Hematemesis, Abdominal pain, Diarrhea, Sho... ORPHA:652
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome, Esophagitis OMIM:131100
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... ORPHA:85414
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hepatic steatosis, Hepatic necrosis OMIM:231530
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Increased bone mineral density, Poor appetite, Diaphyseal... OMIM:131300
Wrinkly Skin Syndrome
Osteopenia, Decreased muscle mass, Kyphoscoliosis, Generalized joint laxity, Slurred speech, Prog... ORPHA:2834
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614935
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Vomiting, Hypoglycemia OMIM:201450
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Frequent Giardia lamblia infestation, Hypoglycemia OMIM:615577
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Panniculitis, Cirrhosis, Hepat... ORPHA:79086
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Ar... OMIM:617591
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Elbow flexion contracture, Hemivertebrae, Narrow... OMIM:200980
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:602782
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100080
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea OMIM:602481
Charge Syndrome
Anal stenosis, Facial palsy, Esophageal atresia, Hemivertebrae, Tracheoesophageal fistula, Cleft ... OMIM:214800
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Diarrhea, Low-to-n... OMIM:601678
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Osteomalacia, Hypermagn... ORPHA:405
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia, Cleft palate ORPHA:2237
Silver-Russell Syndrome 1
Intrauterine growth retardation, Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen... ORPHA:2538
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... ORPHA:32960
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Hypoglycemia, Tremor, Truncal ataxia, Dysmetria, Hyperammonemia, Anteriorly pla... OMIM:220111
O'Sullivan-Mcleod Syndrome
Eosinophilia, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper limb muscle weak... ORPHA:99965
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Bicornuate uterus, Proteinuria OMIM:222448
Turcot Syndrome With Polyposis
Intestinal polyposis, Ataxia, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tu... ORPHA:99818
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Elevated circulating creatine kinase concentration, Clonus, Tremor, Left ventricula... OMIM:619424
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts... OMIM:208500
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Kyphoscoliosis, Severe generalized osteoporosis, Knee flexion contracture, High ... OMIM:210730
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, ... OMIM:619488
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Bowel incontinence, Abnormal stomach morphology, Tremor, Feedin... ORPHA:512
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Abdomina... OMIM:617156
Cockayne Syndrome
Hepatomegaly, Somatic sensory dysfunction, Neurogenic bladder, Ataxia, Urinary incontinence, Unil... ORPHA:191
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Osteoporosis, Hyperkalemia, Hypovolemia, Reduced bone mineral density, Feeding diff... ORPHA:168558
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... ORPHA:137675
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Gastroparesis, Tremor, Hyperammonemia, Hypertension, Intrauterine growth retardation, Arr... OMIM:614052
Neurofibroma
Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib... ORPHA:252183
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Kyphoscoliosis, Short neck, Diastasis recti, Flexion... ORPHA:96334
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis OMIM:133540
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Hypercalcemia, Peptic ulcer, Shortened QT interval, Osteoporosis, Hypophosph... ORPHA:99880
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Ataxia, Proteinuria, Nephrotic syndrome, Focal ... OMIM:251300
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Hepatosplenomegaly, Ver... ORPHA:263508
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Osteoporosis, Hyperkalemia, Hypovolemia, Reduced bone mineral density, Feeding diff... ORPHA:289548
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Kyphoscoliosis, Congestive ... OMIM:154700
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Phimosis, Urinary bladder inflammation, Abnormal vagina morphology, Bron... ORPHA:99921
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Short neck, Tremor, Feeding ... ORPHA:280633
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Parathyroid Carcinoma
Nausea and vomiting, Hypercalcemia, Peptic ulcer, Shortened QT interval, Osteoporosis, Hypophosph... ORPHA:143
Diamond-Blackfan Anemia 10
Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Reticulocytope... OMIM:613309
Serotonin Syndrome
Tachycardia, Clonus, Tremor, Rigidity, Diarrhea, Rhabdomyolysis, Hypertension, Hypertonia, Myoclo... ORPHA:43116
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Feeding difficulties in infancy, Gastrointestinal dysmotility, Hemivertebrae, Gastroesophageal re... ORPHA:500150
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Hemoglobinuria OMIM:266120
Young-Onset Parkinson Disease
Gastroparesis, Tremor, Rigidity, Diarrhea, Bradykinesia, Constipation, Gait imbalance, Dystonia, ... ORPHA:2828
Leopard Syndrome 1
Bundle branch block, Scapular winging, Kyphoscoliosis, Limited elbow movement, Short neck, Cleft ... OMIM:151100
Developmental And Epileptic Encephalopathy 50
Broad-based gait, Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, ... OMIM:616457
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Bowel incontinence, Hyperlordosis, ... ORPHA:573278
Rothmund-Thomson Syndrome, Type 2
Kyphoscoliosis, Osteoporosis, Telangiectasia, Anteriorly placed anus, High palate OMIM:268400
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... OMIM:116920
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Kyphoscoli... OMIM:163950
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention... ORPHA:436252
Sponastrime Dysplasia
Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Delayed epiphyseal ossification, Generalized ... ORPHA:93357
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Autop... OMIM:164310
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Biotinidase Deficiency
Hepatomegaly, Ataxia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, ... OMIM:253260
8Q24.3 Microdeletion Syndrome
Joint laxity, Gastrointestinal hemorrhage, Thoracic scoliosis, Short neck, Feeding difficulties i... ORPHA:508488
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Vertebral fusion, Bundle branch block, Hypoglycemia, Camptodactyly of fing... ORPHA:373
Tsh-Secreting Pituitary Adenoma
Osteopenia, Nausea and vomiting, Supraventricular arrhythmia, Tremor, Congestive heart failure, O... ORPHA:91347
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Short neck, Feeding difficulties in infancy, Delayed proximal femoral epiphyseal os... ORPHA:226307
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Ataxia, Abnormality of coord... ORPHA:79318
Codas Syndrome
Hypoplasia of the odontoid process, Generalized joint laxity, Coronal cleft vertebrae, Gastroesop... OMIM:600373
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Abdominal situs inversus, Chronic sinusitis OMIM:619607
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Diarrhea, Anemia, Fatigable weakness, Dysphagia... ORPHA:169105
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Vici Syndrome
Decreased proportion of CD4-positive helper T cells, Chronic mucocutaneous candidiasis, Leukopeni... OMIM:242840
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramida... ORPHA:51
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia, Peptic ulcer OMIM:145981
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Vomiting, Increased circulating renin level, Hypotension, Neonatal hy... ORPHA:90791
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Hyperlordosis, Cleft palate, Hepatosplenomegaly, Chronic constipation, Limited elbo... OMIM:301066
Restrictive Dermopathy 1
Limb joint contracture, Kyphoscoliosis, Ankylosis, Flexion contracture, Submucous cleft hard pala... OMIM:275210
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia, Feeding difficulties OMIM:613986
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Hyperkalemia, Vomiting, Hypoglycemia ORPHA:90790
Listeriosis
Back pain, Stiff neck, Tremor, Granulomatosis, Vomiting, Nausea, Ataxia, Abdominal pain, Myoclonu... ORPHA:533
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, ... ORPHA:2556
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Pulmonic ste... OMIM:115470
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Beckwith-Wiedemann Syndrome
Hypoglycemia, Diastasis recti, Elevated circulating alpha-fetoprotein concentration, Congenital d... ORPHA:116
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Tachycardia, Limited hip extension, Flexion contracture, Retinal he... OMIM:614653
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Bone cyst, Mitral regurgitation, High palate... ORPHA:363700
Basilar Impression, Primary
Limb muscle weakness, Kyphoscoliosis, Short neck OMIM:109500
Sarcoidosis
Abnormality of the gastrointestinal tract, Hemolytic anemia, Abnormal cardiac ventricular functio... ORPHA:797
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Li-Fraumeni Syndrome
Acute myeloid leukemia, Rhabdomyosarcoma, Acute lymphoblastic leukemia, Neoplasm of the rectum, C... ORPHA:524
Plague
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, Un... ORPHA:707
Kabuki Syndrome 2
Joint laxity, Feeding difficulties in infancy, Cleft palate, High palate, Pulmonic stenosis, Intr... OMIM:300867
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Glucocorticoid Resistance, Generalized
Hypertension, Hypoglycemia OMIM:615962
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... ORPHA:508533
Sotos Syndrome
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Aganglionic megacolon, Hypercalcemia, Ank... ORPHA:821
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dy... ORPHA:646
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia, Feeding difficulties OMIM:616095
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Aortic regurgitation, Tricuspid regurgitation, Kyphoscoliosis, Pyloric stenosis, Kn... OMIM:617402
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Intellectual Developmental Disorder, Autosomal Recessive 78
High palate, Kyphoscoliosis OMIM:620237
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Feeding difficu... OMIM:610505
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:600901
Dpagt1-Cdg
Prolonged QT interval, Ataxia, Akinesia, Tremor, Inability to walk, Flexion contracture, Osteopor... ORPHA:86309
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hypocalcemic seizures OMIM:612301
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... ORPHA:3042
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... ORPHA:508542
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Peptic ulcer, Diarrhea, Fasting hyperinsulinemia, Episodic abdominal pain, Zolling... ORPHA:276152
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Skin rash, Pustule, Splenomegaly, Cervical lym... ORPHA:50918
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
3Q27.3 Microdeletion Syndrome
Kyphoscoliosis ORPHA:397695
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis, Pulmonic stenosis, Bifid tong... ORPHA:97360
Aymé-Gripp Syndrome
Cryptorchidism, Pericarditis, Proteinuria, Breast hypoplasia ORPHA:1272
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Recurrent hypo... ORPHA:293978
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Mgat2-Cdg
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Gastro... ORPHA:79329
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden... ORPHA:1572
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Congestive heart failure, Right bundle branch block, Joint contracture, Camptodac... OMIM:617403
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased fertility in females, Spleno... OMIM:269700
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Jejunal atresia, Ileal atresia, Joint stiffness OMIM:618820
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia OMIM:229700
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Ataxia, Abnormality of the upper urinary tract, Moderate albuminuria, Renal tubular dy... ORPHA:99885
Fanconi Anemia, Complementation Group D2
Pancytopenia, Esophageal atresia, Reticulocytopenia, Tracheoesophageal fistula, Anemia, Neutropen... OMIM:227646
Perlman Syndrome
Distal ileal atresia, Hypoglycemia, Congenital diaphragmatic hernia, Hypoplasia of the abdominal ... OMIM:267000
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Proteinuria, Pancreatic cysts, Abnorma... ORPHA:2750
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Abn... ORPHA:1848
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... OMIM:309000
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, External genital hypoplasia, Cryptorchidism, Jaundice, Hypogonadism, Moderate albu... OMIM:614231
Costello Syndrome
Hyperextensibility of the finger joints, Hypoglycemia, Limited elbow movement, Short neck, Rhabdo... OMIM:218040
Floating-Harbor Syndrome
Speech apraxia, Broad-based gait, Kyphoscoliosis, Short neck, Celiac disease, Gastroesophageal re... ORPHA:2044
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia, Feeding difficulties, Macroglossia, High palate, Aortic valve stenosis OMIM:614501
Fraser Syndrome 2
Intestinal malrotation, Short neck, Abdominal distention, Rectal atresia, Hypoplasia of the thymu... OMIM:617666
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Decreased fertility in females, Splenomegaly, Labial hypertroph... OMIM:608594
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Thoracolumbar kyphoscoliosis, Short neck, Protruding tongue, Unsteady gait, Hypertonia OMIM:212066
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Kyphoscoliosis, Short neck, Cleft palate, Sclerosis of skull base, Platyspondy... OMIM:304120
Van Esch-O'Driscoll Syndrome
Sacral dimple, Esophageal atresia, Unilateral vocal cord paralysis, Tracheoesophageal fistula, Fe... OMIM:301030
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat... OMIM:311200
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hypoglycemia, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, Hyperka... OMIM:201750
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Kyphoscoliosis, Protruding tongue, Short neck, Macroglossia, Lower limb hypertonia, Gastroesophag... OMIM:309580
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Proteinuria OMIM:616682
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Tricuspid stenosis, Asplenia, Esophageal atresia, Gastrointest... OMIM:164280
20Q13.33 Microdeletion Syndrome
Hematochezia, Sacral dimple, Facial hypotonia ORPHA:261311
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, Macrovesi... OMIM:619127
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Submucous cleft hard palate, Aortic valve stenosis, Mitral stenosis, Unila... OMIM:617660
Floating-Harbor Syndrome
Joint laxity, Ivory epiphyses of the distal phalanges of the hand, Kyphoscoliosis, Short neck, Ce... OMIM:136140
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Rectal atresia, Cleft ... ORPHA:2753
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Anteriorly placed anus, Camptod... OMIM:601803
Non-Acquired Panhypopituitarism
Osteopenia, Hypoglycemia, Constipation, Hypotension, Osteoporosis of vertebrae ORPHA:90695
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Median cleft lip and palate, Hypoglycemia, Constipation, Hypotension, Osteoporosis of... ORPHA:95494
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Tachycardia, Intestinal malrotation, Congenital diaphr... OMIM:618280
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Periodontitis, Hydronephrosis OMIM:619269
Generalized Glucocorticoid Resistance Syndrome
Hypertension, Hypokalemia, Hypoglycemia ORPHA:786
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Chronic diarrhea, B lymphocytopenia, Neutropenia OMIM:601495
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis, Feeding difficulties, Flexion contracture of the 2nd finger, Joi... ORPHA:324540
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Neurooculorenal Syndrome
Anteriorly placed anus, Recurrent hypoglycemia, Conjugated hyperbilirubinemia, Intestinal malrota... OMIM:620305
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Shock, Hyperkalemia, Hypovolemia, Feeding difficulties, Hypochloremia, Vomiting, Hy... ORPHA:90794
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Joint hypermobility OMIM:619575
Sacral Defect With Anterior Meningocele
Back pain, Absence of the sacrum, Hemisacrum, Constipation, Rectal abscess, Anterior sacral menin... OMIM:600145
Pineoblastoma
Paralysis ORPHA:251909
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Cardiomyopathy, Hepatoblastoma, Neonatal hypoglycemia OMIM:130650
Penile Agenesis
Maternal diabetes, Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia ORPHA:49
Ring Chromosome 7 Syndrome
Cleft palate, Heart murmur, Lumbar kyphoscoliosis, Severe intrauterine growth retardation, Median... ORPHA:1449
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Congestive heart failure, Neoplasm of the rectum, H... ORPHA:1359
Holoprosencephaly 1
Hypoglycemia, Median cleft lip and palate OMIM:236100

Histopathology

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

There is no histopathology data for Mgat2

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 Mgat2.

No publications found that use IMPC mice or data for Mgat2.

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MGI Allele Allele Type Produced
Mgat2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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