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Gene: Bmal1 MGI:1096381

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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:
basic helix-loop-helix ARNT like 1
Synonyms:
Arnt3,  bHLHe5,  Arntl,  MOP3

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 Bmal1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bmal1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypertriglyceridemia, Hypoglycemia ORPHA:366
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... ORPHA:435660
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Proximal amyotrophy, Gait disturbance, Hyperglycemia, Mildly elevated creatine ki... OMIM:604484
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in femal... ORPHA:528
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Sitosterolemia 2
Elevated circulating sitosterol concentration, Tendon xanthomatosis, Hypercholesterolemia OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Hypogonadotropi... ORPHA:353298
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating th... OMIM:617872
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Hypergonadotropic hypogonadism, Hyperinsul... ORPHA:79237
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... ORPHA:488650
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... ORPHA:171706
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased circulating cerul... OMIM:616828
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia OMIM:615924
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... OMIM:604416
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hyp... ORPHA:2348
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Microvesicular hepatic steatosis, Chorea, Reduced bone mineral densit... ORPHA:404454
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce... OMIM:603813
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Edema, Tremor, Flexion contracture, Renal cyst, Dysmetria, Hypoalbuminemia, Hepatic f... OMIM:212065
Roifman Syndrome
Irregular vertebral endplates, Clinodactyly of the 5th finger, Hepatomegaly, Short metacarpal, Sh... OMIM:616651
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Eczema, Keratitis,... OMIM:618523
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed puberty... ORPHA:633
Poems Syndrome
Sclerosis of hand bone, Edema, Acrocyanosis, Polycythemia, Hypothyroidism, Sclerotic vertebral en... ORPHA:2905
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Distal amyotrophy, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower lim... ORPHA:94124
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Elevated circulatin... OMIM:615980
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Tremor, Flexion contracture, Dehydration, Opisthotonus, Choreoathetosis, Leukopen... OMIM:616271
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Leukope... OMIM:615934
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
22Q11.2 Deletion Syndrome
Impaired T cell function, Polyhydramnios, Short neck, Abnormal lung lobation, Hypoplasia of the t... ORPHA:567
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Insulin-re... ORPHA:79086
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Tremor, Prominent U wa... ORPHA:466677
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... OMIM:248370
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Maculo... OMIM:619644
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... OMIM:301082
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Distal amyotrophy, Steppage gait, Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Elevated circu... ORPHA:2088
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrop... OMIM:618815
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Episodic hy... ORPHA:276575
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... OMIM:278000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Small for gestation... ORPHA:26793
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... ORPHA:412
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... OMIM:607616
Cln3 Disease
Cataract, Acne, Ataxia, Vacuolated lymphocytes, Increased circulating androgen concentration, T-w... ORPHA:228346
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glyc... ORPHA:369
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Patellar... ORPHA:477
Incontinentia Pigmenti
Abnormal hand morphology, Uveitis, Abnormal toenail morphology, Spina bifida occulta, Infectious ... ORPHA:464
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Cataract, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa ... OMIM:214150
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Thrombocythemia 3
Thrombocytosis OMIM:614521
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Decreased muscle mass, Cardiomegaly, Hepatocellular carcinoma, Stiff interphalangeal... ORPHA:465508
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Corneal opacity, Short stature, Ataxia, T... ORPHA:87876
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Eleva... ORPHA:79240
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Decreased cervical spine flexion due to contr... ORPHA:98855
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circu... OMIM:614034
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Alopecia, Short stature, Ataxia, Osteoporosis, Delayed pube... OMIM:212750
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Mic... ORPHA:2959
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Hypog... ORPHA:264580
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Short sta... ORPHA:48431
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... ORPHA:276580
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... ORPHA:444490
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... OMIM:246200
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism OMIM:307500
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax... ORPHA:263501
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Muscle ... ORPHA:280365
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio... ORPHA:57196
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Cataract, Increased circulating ferritin concentration, Osteoart... OMIM:606069
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Elevated circulating creatine kinase concent... OMIM:255800
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Lateral clavicle... OMIM:274000
Hemochromatosis, Type 1
Arthropathy, Cardiomegaly, Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Osteoporosis, C... OMIM:235200
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Cataract, Alopecia, Eosinophilia, Pneumonia, Recurrent pneumonia, Cor p... OMIM:158310
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Hypothyroidism, Decreased circulating antibody level, Iron deficiency anemia, Hypoa... OMIM:226300
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Drug-Induced Lupus Erythematosus
Decreased circulating complement C4 concentration, Elevated circulating creatine kinase concentra... ORPHA:231111
Acute Transverse Myelitis
Impaired vibratory sensation, Back pain, Orthostatic hypotension, Somatic sensory dysfunction, De... ORPHA:139417
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Aspergillosis
Osteomyelitis, Sinusitis, Eosinophilia, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Incre... ORPHA:1163
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Premature graying of hair, T... ORPHA:902
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Decreased cervical spine flexion due to contr... ORPHA:98863
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Decreased cervical spine flexion due to contr... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Decreased cervical spine flexion due to contr... ORPHA:98853
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Propionic Acidemia
Hepatomegaly, Pancytopenia, Dystonia, Short stature, Eczema, Increased level of hippuric acid in ... OMIM:606054
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hypoplasia of the thymus, Otitis med... OMIM:612541
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated circulating creatine kinase concentration, Accelerated skeletal maturation, ... OMIM:613327
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Chorea, Knee os... ORPHA:1304
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Splenomegaly, Dehydration, Hyperam... ORPHA:79312
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Thrombocytopenia, Delayed skeletal ma... OMIM:614857
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Cardiac arrest, Edema, Leukocytosis, Dilated... ORPHA:20
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocyto... ORPHA:3261
Estrogen Resistance
Increased circulating osteocalcin level, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Hepatomegaly, Ataxia, Myocardi... ORPHA:3452
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonary embol... ORPHA:3260
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Polyhydramnios, Micr... ORPHA:800
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated circulating creatine k... OMIM:614727
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Acrocyanosis, Abnormal ... ORPHA:183
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... OMIM:147060
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Limited elbow movement, Thoracolumbar kyphosis, Increased intervertebral space, O... ORPHA:508533
Classic Galactosemia
Reduced bone mineral density, Male infertility, Hepatomegaly, Premature ovarian insufficiency, At... ORPHA:79239
Warburg Micro Syndrome 1
Overlapping toe, External genital hypoplasia, Short stature, Kyphoscoliosis, Cryptorchidism, Peri... OMIM:600118
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Hyper... OMIM:617253
Aggressive Systemic Mastocytosis
Bone pain, Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis,... ORPHA:98850
Alveolar Echinococcosis
Liver abscess, Cholangitis, Pedal edema, Renal cyst, Abnormal sternum morphology, Abnormal verteb... ORPHA:284
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Decreased muscle mass, Hypertriglyceridemia, He... OMIM:619013
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Impaired pain sensation, Limitation of joint mobility, ... ORPHA:2582
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Arthritis,... ORPHA:3165
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Hand muscle... ORPHA:98908
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Alopecia, Bronchiectasis, Spinal canal stenosis, Pulmonic stenosis, Chronic... OMIM:618282
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... ORPHA:79644
Hemochromatosis, Type 3
Purpura, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr... OMIM:604250
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... OMIM:615558
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Ramon Syndrome
Diabetes mellitus, Osteolysis, Abnormal dental enamel morphology ORPHA:3019
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Ataxia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficienc... OMIM:617575
Bacterial Toxic-Shock Syndrome
Myositis, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, Edema, Increa... ORPHA:36234
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... OMIM:609812
Winchester Syndrome
Arthropathy, Corneal opacity, Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal oste... OMIM:277950
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Eosinophilia, Elevated circulating creatine kinase conc... OMIM:253600
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Left ventricular hypertrophy, Hypercholesterolemia, Hyperglycemia, Hypothyroidism ORPHA:90065
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R... ORPHA:79474
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Dehydration, Uveitis, Leukopenia, ... ORPHA:99826
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... ORPHA:71
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cataract, Toe syndactyly, Short neck, Cryptorchidism, Dehydration, Platyspondyly, C... OMIM:618958
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hypergly... ORPHA:134
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ... ORPHA:91547
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Snakebite Envenomation
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema... ORPHA:449285
Incontinentia Pigmenti
Ridged nail, Hemivertebrae, Uveitis, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Alopeci... OMIM:308300
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Dehydration, Weight loss... ORPHA:33355
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leuko... OMIM:607115
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertr... OMIM:608594
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:610539
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss... ORPHA:337
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Shigellosis
Abnormal blood ion concentration, Dehydration, Uveitis, Hypovolemic shock, Conjunctivitis, Acute ... ORPHA:810
Cystinosis
Renal insufficiency, Corneal opacity, Short stature, Portal hypertension, Proteinuria, Nephrogeni... ORPHA:213
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... ORPHA:209902
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Delayed skeletal maturation, Abnormality of the elbow, Abnormal... ORPHA:3268
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Dela... OMIM:618625
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Short stature, Elevated circulating creatine kinase concentration, Hyp... ORPHA:408
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... ORPHA:797
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Distal amyo... OMIM:208920
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... OMIM:603909
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Lymphopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic ane... ORPHA:486
Aarskog-Scott Syndrome
Finger syndactyly, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short stature, Shor... ORPHA:915
Diamond-Blackfan Anemia 1
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triphalangeal thumb... OMIM:105650
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Polyhydramnios, Synophrys, Ragged-red muscle fibers, Generalized amyotrophy, ... OMIM:620351
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Bowing of the long bones, Craniofacial ... ORPHA:61
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concen... ORPHA:36238
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno... OMIM:615947
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone pain, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteopo... ORPHA:98849
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... ORPHA:400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Cataract, Premature ovarian insufficiency, Abnormality of the thyroid gland, R... OMIM:609286
Essential Fructosuria
Hyperglycemia ORPHA:2056
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of sec... ORPHA:785
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Long eyebrows, Tapered finger, Long fingers, Atrioventricular block, Simplified gyral p... OMIM:614407
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Recurrent respiratory in... OMIM:615816
Trichohepatoenteric Syndrome 1
Brittle hair, Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypos... OMIM:222470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Oste... ORPHA:371428
Vici Syndrome
Elevated circulating creatine kinase concentration, Albinism, Leukopenia, T lymphocytopenia, Abno... OMIM:242840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Hepatosplenomegaly OMIM:613101
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Dehydration, Oligosacchariduria, N... ORPHA:534
Idiopathic Congenital Hypothyroidism
Facial edema, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stim... ORPHA:95717
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Delayed puberty... OMIM:616834
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Tendon xanthomatosis, Dysmetria, Increased LDL cholesterol concentr... OMIM:277460
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Hyperlipidemia, Schisto... OMIM:235400
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Tre... ORPHA:94093
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Ataxia, Alopecia, Kyphoscoliosis, Joint stiffness, Oste... OMIM:136300
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Short metatarsal, Irregular vertebral endplates, Elevated circul... ORPHA:439822
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Syndromic Diarrhea
Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus,... ORPHA:84064
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... OMIM:269700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612926
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level... ORPHA:169154
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Dehydration, Nephrocalcinosis, Aminoaciduria... OMIM:208085
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Secondar... OMIM:615300
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... OMIM:242900
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... ORPHA:199299
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:618048
Chromosome 5Q12 Deletion Syndrome
Long toe, Sacral dimple, Ventricular septal defect, Short neck, Postnatal growth retardation, Lon... OMIM:615668
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Myocardial infarction, Pectus carinatum, Hyperhomocystinemia, Homocystinuria, Hepat... OMIM:236200
Forsythe-Wakeling Syndrome
Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Nephrotic syndrome, Decre... OMIM:613606
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Cholestasi... ORPHA:440713
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to t... OMIM:266510
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cataract, Lipodystrophy, Down-sloping shoulders... OMIM:616200
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Gm1 Gangliosidosis
Tremor, Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumonia, Infectious ... ORPHA:354
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Xanthoma Disseminatum
Diabetes insipidus, Osteolysis ORPHA:158003
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Vernal Keratoconjunctivitis
Scarring, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Cornea... ORPHA:70476
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612925
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ... OMIM:615592
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Omenn Syndrome
Hepatomegaly, Alopecia, Eosinophilia, Edema, Pneumonia, Splenomegaly, Short toe, Leukocytosis, Th... ORPHA:39041
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... OMIM:616267
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinase concentration, P... OMIM:606612
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Widened atrophic scar, ... ORPHA:1900
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Congesti... OMIM:619048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia... OMIM:304790
Palmoplantar Carcinoma, Multiple Self-Healing
Short neck, Nail dystrophy, Finger joint hypermobility, Chronic rhinitis, Corneal neovascularizat... OMIM:615225
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:301074
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Nephropathy, Avascular necrosis, Hemolytic anemia, Hepatomegaly... ORPHA:809
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Ataxia, Thrombocytopenia, Dehydration, Hype... ORPHA:27
Congenital Enterovirus Infection
Polyhydramnios, Fetal ascites, Hydrops fetalis, Leukopenia, Hypoalbuminemia, Neutropenia, Infecti... ORPHA:292
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Decreased thyroid-stimulating hormone level, Macroorchidism, Goiter, Pituitar... ORPHA:90674
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Impaired temperature sensation, Abnormal tibia morphology, Flex... ORPHA:2614
Legionnaires Disease
Abnormal lung morphology, Infectious encephalitis, Hyponatremia, Ataxia, Recurrent pharyngitis, H... ORPHA:549
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, E... OMIM:243700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infil... OMIM:131400
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... OMIM:615453
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Aicardi-Goutieres Syndrome 9
Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolyti... OMIM:619487
Prieto Syndrome
11 pairs of ribs, Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Patellar subluxation... OMIM:309610
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short stature, Short neck, Osteoporosis, ... OMIM:616033
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose t... ORPHA:93160
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... OMIM:102700
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal muscle fiber morphology, Cryptorchidism, Camptodactyly of toe, Umbilica... OMIM:175700
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... OMIM:615710
Lujo Hemorrhagic Fever
Stiff neck, Elevated circulating C-reactive protein concentration, Facial edema, Periorbital edem... ORPHA:319213
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypoglycemia, Anterior pituitary hypoplasia, Ataxia, Hypogonadotropic ... ORPHA:453533
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... ORPHA:95716
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Adrenocortical adenoma, Increased intramy... ORPHA:681
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Periungual erythema, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Mult... OMIM:308205
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Mucopolysaccharidosis, Type Ivb
Metaphyseal widening, Flaring of rib cage, Chondroitin sulfate excretion in urine, Joint laxity, ... OMIM:253010
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Patellar subluxation, Finger clinodact... ORPHA:2958
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Edema, Elevated circulating C-reactive protein... ORPHA:90051
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Osteopenia, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Low anterior hairline, Reticulocytopenia, Leukopenia, Triphala... ORPHA:124
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... ORPHA:699
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... ORPHA:99827
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Kyphosis, Osteoporosis, M... OMIM:618234
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Flexion contracture, Rib osteolysis, Alopecia, Short stature, Sparse eyeb... OMIM:614008
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Postnatal growth retardation, Hem... ORPHA:2169
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Bone pain, Abnorm... ORPHA:666
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Eosinophilic Gastroenteritis
Eosinophilia, Edema, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Le... ORPHA:2070
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... OMIM:274150
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Farber Disease
Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulm... ORPHA:333
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulati... ORPHA:2410
Hjv Or Hamp-Related Hemochromatosis
Arthropathy, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferri... ORPHA:79230
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Dehy... OMIM:251000
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency... ORPHA:2334
H Syndrome
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Recurrent fractures, Delayed puberty, Ost... ORPHA:168569
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Lower limb muscle weakness, Obesity OMIM:619737
Mucopolysaccharidosis, Type Iva
Short neck, Metaphyseal widening, Pectus carinatum, Flaring of rib cage, Anterior beaking of lumb... OMIM:253000
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Splen... OMIM:617591
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Micromelia, Short neck, Abnormal femur morphology, Narrow chest, Hernia, Atria... ORPHA:1842
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
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil coun... ORPHA:3226
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Renal insufficiency, Proteinuria, Incr... ORPHA:182050
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Dehydration, Iron deficiency anemia, Abnormality of... ORPHA:1667
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... OMIM:620265
Ataxia-Telangiectasia
Skeletal muscle atrophy, Lymphopenia, Diabetes mellitus, Telangiectasia of the skin, Short statur... ORPHA:100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of puberta... OMIM:614837
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, In... ORPHA:1775
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Recurrent fractures, Cran... ORPHA:2314
Cystinosis, Nephropathic
Skeletal muscle atrophy, Metaphyseal widening, Dehydration, Aminoaciduria, Renal Fanconi syndrome... OMIM:219800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, Abnormality of humor... ORPHA:277
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Short neck, Synop... ORPHA:488632
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased cir... ORPHA:1227
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... ORPHA:98907
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Dehydratio... ORPHA:90791
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulatio... OMIM:176270
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Abnormality of the knee, Metaphyseal dysplasia, Short stature, Onychauxis, Abnormal h... ORPHA:319195
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul... ORPHA:3294
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Angioedema, T... ORPHA:139402
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Wrist sw... ORPHA:1159
Interstitial Lung And Liver Disease
Hepatomegaly, Hypothyroidism, Intraalveolar phospholipid accumulation, Hyperammonemia, Cholestasi... OMIM:615486
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... ORPHA:96180
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-ind... OMIM:607155
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic... ORPHA:90154
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort... ORPHA:171876
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Bone pain, Low anterior hairline, Pectus carinatum, Coarse hai... ORPHA:955
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Short Syndrome
Inguinal hernia, Lipodystrophy, Lipoatrophy, Small for gestational age, Insulin resistance, Absen... OMIM:269880
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona... ORPHA:91347
Koolen-De Vries Syndrome
Bicuspid aortic valve, Prominent fingertip pads, Atrial septal defect, Vesicoureteral reflux, Iri... OMIM:610443
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat... ORPHA:2552
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypoplastic left heart, Bradycardia, Scoliosis, Intrauterine growth re... OMIM:616276
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Edema, Cardiomegaly, Large for gestational age, Polyhydramnios... ORPHA:363705
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Renpenning Syndrome
Decreased testicular size, Skeletal muscle atrophy, Alopecia, Diabetes mellitus, Cataract, Hyposp... ORPHA:3242
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Gait di... ORPHA:2774
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Lymphedema, Generalized joint laxity,... ORPHA:536471
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Reduce... ORPHA:168558
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Waddling gait, Corneal opacity, Short stature, Isosexual precocious pub... ORPHA:2788
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Mastocytosis, Pneumonia, Short stature, Hypo... ORPHA:2135
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bon... OMIM:301078
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Atelectasis, Leukocytosis, Increased circu... ORPHA:2902
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Increased circulating IgE level, Dehydration, Hyper... OMIM:616069
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Abno... ORPHA:1445
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Cataract, Telangiectasia, Interstitial p... ORPHA:454831
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Ascites, Pleural e... OMIM:614702
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Edema, Leukocytosis, Peritonitis, Abnormal heart ... ORPHA:391673
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level OMIM:618092
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Metaphyseal dysplasia, Brachydactyly, Eosinophilia, Kyphoscoliosis, Coxa valga, Pectus excavatum,... OMIM:617425
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia ORPHA:100024
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Elevated circulating creatine kinase concentration, Osteolysis, Increased suscepti... ORPHA:52430
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... OMIM:618986
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Accelerated skeletal maturation, Renal ... ORPHA:90794
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Accelerated ske... OMIM:245600
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Gait disturbance... ORPHA:819
Prader-Willi Syndrome
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Edema, External... ORPHA:739
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Abnormal hair pattern, Shor... ORPHA:2332
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Maffucci Syndrome
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri... ORPHA:2848
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Cataract, Severe short stature, Delayed skeletal maturation, Ab... ORPHA:2643
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pne... ORPHA:169160
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Williams Syndrome
Osteopenia, Periorbital edema, Dysmetria, Abnormal form of the vertebral bodies, Nephrocalcinosis... ORPHA:904
Lacrimoauriculodentodigital Syndrome
Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal digit morphology,... ORPHA:2363
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc... ORPHA:90041
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Edema, Tremor, Quadriceps muscle weakness, Ra... ORPHA:254892
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Fai... OMIM:618235
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive he... ORPHA:60041
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Kniest Dysplasia
Arthropathy, Enlarged joints, Abnormality of the epiphysis of the femoral head, Short neck, Delay... ORPHA:485
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Multiple... OMIM:312150
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Multiple... OMIM:253290
Ollier Disease
Precocious puberty, Osteolysis, Joint stiffness ORPHA:296
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Osteolytic defe... OMIM:618175
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Generali... ORPHA:171
Potocki-Lupski Syndrome
Hypothyroidism, Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98754
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... ORPHA:3409
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Petechiae, ... ORPHA:99828
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... ORPHA:96253
Premature Aging Syndrome, Penttinen Type
Hyperextensibility of the knee, Elevated circulating thyroid-stimulating hormone concentration, T... OMIM:601812
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, ... OMIM:259600
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:98793
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Delayed pube... ORPHA:79259
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Pedal edema, Weight loss,... ORPHA:188
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177904
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Hyperlordosis, Spinal rigidity, Congestive heart failure, Flex... ORPHA:157973
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Transient hyp... ORPHA:156
Metatropic Dysplasia
Cataract, Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossifica... ORPHA:2635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, External genital hypoplasia, Polyhydramnios, Micromelia, Fle... ORPHA:2671
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituit... ORPHA:177901
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Netherton Syndrome
Hypernatremic dehydration, Decreased circulating IgG level, Recurrent respiratory infections, Bri... OMIM:256500
Wilson Disease
Decreased circulating ceruloplasmin concentration, Edema, Tremor, Osteoarthritis, Pedal edema, Ha... OMIM:277900
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion cont... OMIM:271640
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Xeroderma Pigmentosum, Complementation Group D
Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc... OMIM:278730
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Paronychia, Abnormal blood ion concentration, Dehydration, Gastrointes... ORPHA:79404
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Hepatomegaly, Recurrent respiratory infections, Short stature, Bone-marr... OMIM:257200
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Hypotension, Postural hypotension with compensatory tac... ORPHA:369873
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Sparse hair... OMIM:601559
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Leg dystonia, Congenital foot contractures, Ankle clonus, Tip-toe gait, Bradycard... ORPHA:565624
Macs Syndrome
Joint laxity, Prolonged bleeding time, Alopecia, Hypergonadotropic hypogonadism, Palpebral edema,... OMIM:613075
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Short neck, Neutropenia, Intrauterine growth retardation, Nephropathy, ... ORPHA:1830
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Pachydermoperiostosis
Edema, Impaired temperature sensation, Bone pain, Avascular necrosis, Genu varum, Hepatomegaly, A... ORPHA:2796
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ... ORPHA:79159
Immunodeficiency 49
Decreased proportion of naive CD4 T cells, Impaired lymphocyte transformation with phytohemagglut... OMIM:617237
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Cyanosis, Decreased response to growth hormone stimu... ORPHA:293987
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Postnatal growth retardation,... ORPHA:556030
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... ORPHA:70
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Lymphedema, Metaphyseal widening,... OMIM:239850
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Erythrokeratodermia Variabilis
Alopecia, Cataract, Diabetes mellitus, Corneal opacity, Skin rash, Tapered finger, Short stature,... ORPHA:317
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... OMIM:603553
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Adrenal hypoplasi... ORPHA:95409
X-Linked Agammaglobulinemia
Sinusitis, Abnormal lung morphology, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis me... ORPHA:47
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Edema, Pulmonary embolism, Mi... ORPHA:90308
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Facial hypotonia, Ventricular septal... ORPHA:85194
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Retinal telangiectasia, Tremor, Premature graying of hair, Intestinal bleeding, Spars... OMIM:612199
Rosaï-Dorfman Disease
Osteolysis ORPHA:158014
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumonia, Giant platelets, ... ORPHA:238459
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre... OMIM:609069
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia, Tendon xanthomatosis OMIM:603776
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal rib morpholo... ORPHA:93351
Cockayne Syndrome B
Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the ir... OMIM:133540
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Impaired glucose ... ORPHA:769
Myhre Syndrome
Short neck, Atrial septal defect, Broad ribs, Sparse hair, Vertebral fusion, Short stature, Ataxi... OMIM:139210
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Hypoplastic... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Hypoplastic... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Hypoplastic... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Hypoplastic... ORPHA:881
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... ORPHA:2968
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Accelerated skeletal maturation, Short neck, Flexion contracture, Hydrops fetalis... OMIM:253220
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... ORPHA:97287
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Hypohidro... ORPHA:98813
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... ORPHA:3008
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Wells Syndrome
Vasculitis, Eosinophilia, Edema, Cellulitis ORPHA:901
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Kyphosis, Abnormality of the ovary, Joint hyperflexibility, Hypogonadism, Gait disturba... ORPHA:1875
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis OMIM:615269
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, Ureteral duplication, Conge... ORPHA:373
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Sclerocornea, Abnormal form of the vertebral bodies, Hernia, Atr... ORPHA:280
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Impaired rist... OMIM:231200
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal bleeding, Splenomegaly, Jaundice, Osteoporosi... ORPHA:79301
Wilson Disease
Back pain, Bone pain, Increased body weight, Acute hepatitis, Hepatic steatosis, Hepatomegaly, He... ORPHA:905
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Cataract, Short stature, Short neck, Short toe, Osteoporosis, Pseudohypoparathy... OMIM:103580
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Osteolysis, Umbilical hernia ORPHA:137834
Doors Syndrome
Adrenal hyperplasia, Polyhydramnios, Abnormal finger morphology, Low anterior hairline, Hemiverte... ORPHA:79500
Gitelman Syndrome
Prolonged QT interval, Ataxia, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyolysis,... OMIM:263800
Cartilage-Hair Hypoplasia
Micromelia, Accelerated skeletal maturation, Heart block, Metaphyseal chondrodysplasia, Short nec... ORPHA:175
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis... OMIM:184260
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Metrorrh... ORPHA:99147
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Cataract, Short stature, Short neck, Elevated circulating thyroid-stimulating h... OMIM:612462
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... ORPHA:35878
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Thin ribs, Gray matt... OMIM:617397
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Inguinal hernia, Cataract, Small for gestational age, Short stature, Kyphosis, Red... OMIM:618392
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Hernia, Endocardial fibroelastosis, Abnormal vertebral ... ORPHA:93473
Harlequin Ichthyosis
Recurrent respiratory infections, Cataract, Sudden cardiac death, Limitation of joint mobility, D... ORPHA:457
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... OMIM:213980
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Koolen-De Vries Syndrome
Ureteral duplication, Bicuspid aortic valve, Vertebral segmentation defect, Vesicoureteral reflux... ORPHA:96169
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Multiple joint dislocation, Anteri... ORPHA:536467
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Glutamine Deficiency, Congenital
Hypoglutaminemia, Recurrent respiratory infections, Micromelia, Flexion contracture, Hyperammonem... OMIM:610015
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... OMIM:618156
Chronic Hiccup
Abnormality of the diaphragm, Dehydration, Weight loss ORPHA:396
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin resistance... ORPHA:90153
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Enlarged ovaries, Ins... ORPHA:508
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Polyhydramnios, Beaded ribs, Cardiomegaly, Multiple prenatal fractures, Short neck, F... OMIM:616897
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent respiratory infect... OMIM:615387
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Short stature, Cryptorchidism, Abnormal thorax morphology, Abnormality o... ORPHA:638
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Dystonia OMIM:616277
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometro... ORPHA:849
Hermansky-Pudlak Syndrome 2
Albinism, Periodontitis, Neutropenia, Hepatomegaly, Prolonged bleeding time, Decreased CD4:CD8 ra... OMIM:608233
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Pectus carinatum, Reduced bone mineral density, Enlarged thorax, Femoral... OMIM:614856
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Erythroderma, Lymphadenopat... ORPHA:79456
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia ORPHA:28
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Dystonia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme... OMIM:614654
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... OMIM:265000
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Impaired temperature sensation, Flexion c... ORPHA:398069
Perrault Syndrome 1
Short stature, Ataxia, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea... OMIM:233400
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Dystonia, Pulmonary ... OMIM:616299
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Polyhydramnios, Bilateral cr... OMIM:300998
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentration, Decre... OMIM:301080
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Corneal opacity, Hypospadias, Congenital diaphragmatic hernia, Crani... ORPHA:2409
Mucolipidosis Type Ii
Dry hair, White hair, Knee flexion contracture, Narrow chest, Otitis media, Patent foramen ovale,... ORPHA:576
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Bone marrow hypoce... OMIM:243500
Hemorrhagic Fever-Renal Syndrome
Back pain, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial ne... ORPHA:340
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Lower-limb joint contracture, ... ORPHA:99885
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Sengers Syndrome
Osteopenia, Cataract, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Deve... OMIM:212350
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:609053
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis OMIM:610644
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Recurrent respiratory infections, Renal salt wasting, Hyperkalemia, Dehydration, Hy... OMIM:264350
Gorlin Syndrome
Vertebral fusion, Cataract, Arachnodactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Hemive... ORPHA:377
Dpagt1-Cdg
Tremor, Flexion contracture, Intracranial hemorrhage, Hepatomegaly, Arachnodactyly, Ataxia, Osteo... ORPHA:86309
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Decreased circulating antibody level, Reduc... ORPHA:90362
Igg4-Related Aortitis
Increased inflammatory response, Low back pain, Increased circulating IgG4 level, Elevated circul... ORPHA:449400
Neurogenic Thoracic Outlet Syndrome
Dysesthesia, Abnormal rib morphology, Paresthesia ORPHA:100073
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Angioedema, Lymphadenopathy, Hypotension, Pe... ORPHA:79455
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... ORPHA:542323
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100075
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Dehydration, Methylmalonic ... ORPHA:289504
Xp21 Deletion Syndrome
Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ... ORPHA:261476
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis... ORPHA:49041
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... OMIM:620210
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Edema, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ... OMIM:219090
Alagille Syndrome
Corneal dystrophy, Abnormal pupil morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:52
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Atrioven... ORPHA:581
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Microcornea, Premature graying of hair, Short palm, Sparse hair, Abse... OMIM:268400
Alexander Disease
Osteopenia, Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Hyperlordosis, Precoci... ORPHA:58
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level... ORPHA:397596
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Elevated circulatin... OMIM:212138
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Neuraminidase Deficiency
Skeletal muscle atrophy, Inguinal hernia, Cataract, Hepatomegaly, Short stature, Bone-marrow foam... OMIM:256550
Mirage Syndrome
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Acha... OMIM:617053
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Postnatal growth retardation,... ORPHA:556037
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub... ORPHA:358
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Failure to thrive, Pancytopenia, Aplastic anemia, Short stature, Dilated card... OMIM:613989
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Elevated circ... OMIM:618775
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... ORPHA:1515
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Caudal Regression Syndrome
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Maternal diabetes, Missing ribs... ORPHA:3027
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Cataract, Short stature, Ataxia, Delayed closure of the anterior font... ORPHA:251009
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Ataxia, Osteoporosis, Recurrent aspiration pneumonia, Polyhydramnios OMIM:619971
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian... ORPHA:3464
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Pseudopseudohypoparathyroidism
Short metacarpal, Cataract, Short stature, Short neck, Osteoporosis, Pseudohypoparathyroidism, Ob... OMIM:612463
Bohring-Opitz Syndrome
Joint dislocation, Cardiomegaly, Synophrys, Congenital contracture, Prominent metopic ridge, Shor... ORPHA:97297
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase, Osteolytic defects of the phalanges of... OMIM:600705
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Thoracic hemiverteb... OMIM:268310
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Osteomalac... ORPHA:2176
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Short neck, Abnormal sacrum morpholog... ORPHA:2345
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Knee disloc... OMIM:618000
Infantile Myofibromatosis
Hypercalcemia, Limitation of joint mobility, Bone cyst, Osteolysis, Chondrocalcinosis ORPHA:2591
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicula... OMIM:124000
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hydrops fetalis, Dehydration, Hyperh... ORPHA:79282
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Hypercalcemia, Increased blood urea nitrogen, Delayed puberty, Episodic hemolytic anemia ORPHA:251004
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Iron defici... ORPHA:93315
Tenosynovial Giant Cell Tumor
Joint stiffness, Limitation of joint mobility, Osteolysis, Localized osteoporosis, Chondrocalcinosis ORPHA:66627
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Ventricular septal... ORPHA:93267
Alg12-Cdg
Edema, Polyhydramnios, Proximal placement of thumb, Hypoalbuminemia, Hypocholesterolemia, Abnorma... ORPHA:79324
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi... OMIM:601005
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Symphal... ORPHA:628
Short Stature, Microcephaly, And Endocrine Dysfunction
Ectopic kidney, Simplified gyral pattern, Dysmetria, Sparse hair, Micropenis, Hypothyroidism, Sho... OMIM:616541
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... OMIM:156530
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po... OMIM:619565
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ov... ORPHA:2232
Cenani-Lenz Syndrome
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Absent fingernail, Hypothyr... ORPHA:3258
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Ataxia, Abnormal atr... ORPHA:3208
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Short stature, Del... OMIM:222700
Mucolipidosis Ii Alpha/Beta
Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening... OMIM:252500
Takayasu Arteritis
Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology... ORPHA:3287
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block verteb... OMIM:277300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cataract, Ventricular septal defect, Recurrent fractures, Micromelia, Crypto... ORPHA:2772
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... OMIM:610600
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... ORPHA:79319
Cach Syndrome
Cataract, Premature ovarian insufficiency, Flexion contracture, Nonketotic hyperglycinemia, Secon... ORPHA:135
Noonan Syndrome 12
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... OMIM:618624
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... OMIM:203400
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Abnormal thymus mo... OMIM:611926
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:540
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Synophrys... ORPHA:536545
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomi... ORPHA:398079
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Low anterior hairline, Pectus c... OMIM:617303
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Alopecia, Myocarditis, Congestive heart failure, Leukocytosis,... ORPHA:31824
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Waddling gait, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscolio... OMIM:208230
Neuhauser Syndrome
Hypercholesterolemia, Ataxia, Primary hypothyroidism OMIM:249310
Brittle Cornea Syndrome
Hallux valgus, Arachnodactyly, Corneal dystrophy, Corneal erosion, Osteoporosis, Abnormality of h... ORPHA:90354
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Hypoxemia, Diabe... ORPHA:70578
Keratoconus Posticus Circumscriptus
Keratoconus, Limited elbow extension and supination, Short neck, Vesicoureteral reflux, Growth de... OMIM:244600
Scrub Typhus
Abnormal bleeding, Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Splenomegaly, Myocar... ORPHA:83317
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:226307
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Pedal edema, Coxa vara, Double-layered patella, Abnormal hip ... ORPHA:166011
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Abscess, Ele... OMIM:612852
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... OMIM:234250
Cantú Syndrome
Cardiomegaly, Accelerated skeletal maturation, Short neck, Low anterior hairline, Narrow chest, B... ORPHA:1517
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Hepatomegaly, Cataract, Alopecia, Elevated circulating creatine kinase c... OMIM:615704
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100080
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Short stature, Postnatal growth retardation, Delayed skeletal maturati... ORPHA:73272
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Congenital Erythropoietic Porphyria
Osteopenia, Edema, Anisocytosis, Scarring alopecia of scalp, Abnormal circulating porphyrin conce... ORPHA:79277
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Low plasma citrulline, Corneal arcus, Hypoprolinemia, Sparse hair, Sh... OMIM:219150
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... OMIM:618999
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... ORPHA:85443
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Edema, Elevated circulating C-reactive protein conc... ORPHA:324964
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia ORPHA:289916
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Bilateral cryptorchidism, Obesity, Male hypogonadism, Hypercholest... OMIM:619471
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorc... OMIM:617796
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Polyhydramni... OMIM:612562
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
19P13.3 Microduplication Syndrome
Ventricular septal defect, Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Long fi... ORPHA:447980
Cogan Syndrome
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,... ORPHA:1467
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Atrial sep... OMIM:194190
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia, Limb hypertonia OMIM:614498
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... OMIM:175780
Meningococcal Meningitis
Shock, Renal insufficiency, Stiff neck, Skin rash, Elevated circulating C-reactive protein concen... ORPHA:33475
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception... ORPHA:14
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism, Ataxia ORPHA:2479
Menkes Disease
Joint laxity, Alopecia, Decreased circulating ceruloplasmin concentration, Short stature, Metaphy... OMIM:309400
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... ORPHA:481
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... OMIM:256040
Classic Hodgkin Lymphoma
Ataxia, Osteolysis ORPHA:391
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne... OMIM:241200
Peeling Skin Syndrome 1
Brittle hair, Short stature, Eosinophilia, Increased circulating IgE level, Onycholysis, Nail dys... OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... ORPHA:276
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Abnor... ORPHA:70587
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Broad ribs, Anterior wedging of L1, ... OMIM:253200
Familial Thrombocytosis
Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Thrombocytosis, Splenomegal... ORPHA:71493
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Short neck, Abnormality of ... ORPHA:2234
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Short stature, Ataxia, Avascular nec... OMIM:613990
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin... OMIM:602579
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Acne, Osteop... OMIM:615830
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, H... ORPHA:470
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100082
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Coxa vara, Hernia, Prolonged bleeding time, Femoral hernia, Abnorm... ORPHA:1901
Hellp Syndrome
Back pain, Hemolytic anemia, Pulmonary edema, Decreased mean corpuscular hemoglobin concentration... ORPHA:244242
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Digeorge Syndrome
Impaired T cell function, Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypop... OMIM:188400
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Griscelli Syndrome Type 1
Hyperlipidemia, Ataxia ORPHA:79476
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria ORPHA:79238
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric aciduria,... OMIM:557000
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Inguinal hernia, Cataract, Cryptorchidism, Developmental glaucoma, Flexion contractur... OMIM:614438
Congenital Fibrinogen Deficiency
Decreased testicular size, Abnormal bleeding, Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Ab... ORPHA:335
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Decreased se... ORPHA:77293
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch recombination, Inc... OMIM:308230
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... OMIM:178110
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Arrhyt... ORPHA:85447
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Majeed Syndrome
Edema, Flexion contracture, Bone pain, Hepatomegaly, Increased bone mineral density, Acne, Congen... ORPHA:77297
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Missing rib... ORPHA:1834
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Trisomy 13
Abnormal lung lobation, Hydrops fetalis, Narrow chest, Hernia, Atrial septal defect, Intrauterine... ORPHA:3378
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Ab... ORPHA:84
Prune Belly Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Abnormality of the uterus, Vesicourete... ORPHA:2970
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... ORPHA:363618
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Conjunctivitis,... ORPHA:505248
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, Generalized joint laxity, Pectus carinatu... OMIM:619472
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Flexion contracture, Osteolysis, Arthritis ORPHA:220393
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cataract, Ataxia, Cachexia, Joint stiffness, Abnormality of th... ORPHA:2047
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldoster... OMIM:177735
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level, Polyuria, Nephrolithiasis, Dehydr... OMIM:143880
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Short stature, Spinal instability OMIM:251250
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Achalasia, Thrombocytopenia OMIM:615750
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Recurrent respiratory infections, Eosinophilia, Megaloblas... ORPHA:90045
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Periorbital edema,... ORPHA:449563
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Flexion contracture, Impaired proprioception, Dysmetria, Gait ataxia, Aspiration pneumoni... ORPHA:99027
Pulmonary Blastoma
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Hypomagnesemia, Neonatal hypoglycemia, Increased blo... OMIM:223360
Yellow Fever
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... ORPHA:99829
Trichothiodystrophy
Osteopenia, Joint dislocation, Congenital exfoliative erythroderma, Multiple joint contractures, ... ORPHA:33364
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Familial Cold Urticaria
Dysesthesia, Arthritis, Conjunctivitis, Dehydration ORPHA:47045
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Facial edema, Patellar hypoplasia, Neutropenia, Sparse hair, Juvenil... ORPHA:221008
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormal r... ORPHA:1703
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Blepharitis,... ORPHA:163934
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Hypertension, Hypogonadism, Limb... ORPHA:97229
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Small for gestat... OMIM:616229
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Edema, Goiter, Delayed pr... ORPHA:90673
Geroderma Osteodysplastica
Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Osteoporosis, Hip disloca... ORPHA:2078
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Polyuria, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy, Type I ... OMIM:560000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Ataxia, Large for gestational... OMIM:615398
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hyperlipidemia,... OMIM:232200
African Trypanosomiasis
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, A... ORPHA:3385
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity OMIM:620195
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Verheij Syndrome
Joint laxity, Vertebral fusion, Small for gestational age, Ventricular septal defect, Short statu... OMIM:615583
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Martsolf Syndrome 1
Thoracic scoliosis, Osteopathia striata, Low anterior hairline, Pectus carinatum, Finger joint hy... OMIM:212720
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated creatine kinase after exercise, Cyanosis, Dicarboxylic aciduria, Elevated ... ORPHA:159
Combined Malonic And Methylmalonic Aciduria
Methylmalonic aciduria, Failure to thrive, Dehydration OMIM:614265
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Impaired vibratory sensation, Ataxia, Urinary incontinence, Unsteady gait, Dysmetria, Mitral valv... ORPHA:98
Cockayne Syndrome Type 1
Tremor, Uveitis, Conjunctivitis, Male hypogonadism, Hepatomegaly, Ataxia, Scarring, Cryptorchidis... ORPHA:90321
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Cataract, Small for gestational age, Hypospadias, Ataxia, Dystonia, Hype... OMIM:615471
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Accelerated skeletal maturation, Mesomelic/rhizo... ORPHA:1354
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Fa... ORPHA:293173
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Metrorrhagia, Epistaxis, Albinism, Impai... OMIM:614074
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Delayed s... ORPHA:3085
Combined Oxidative Phosphorylation Deficiency 39
Recurrent respiratory infections, Flexion contracture, Simplified gyral pattern, Sinus bradycardi... OMIM:618397
Mucopolysaccharidosis Type 6
Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Joint stiffness, Short neck, ... ORPHA:583
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Infec... ORPHA:391487
Central Diabetes Insipidus
Hyponatremia, Dehydration, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Inguinal hernia, Hypospadias, Opisthotonus, Growth delay, Bradycardia, P... OMIM:619272
Emanuel Syndrome
Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic hernia, Atrial ... ORPHA:96170
Kallmann Syndrome
Hypoplasia of penis, Tremor, Reduced bone mineral density, Micropenis, Hypogonadotropic hypogonad... ORPHA:478
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, ... OMIM:616549
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Rhizomelia, Hypospadia... OMIM:611209
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... ORPHA:313892
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Short thorax, ... OMIM:618845
Lead Poisoning
Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis... ORPHA:330015
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Acquired Partial Lipodystrophy
Lipoatrophy, Proteinuria, Myopathy, Lymphocytosis, Microscopic hematuria, Hepatic steatosis, Gene... ORPHA:79087
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short stature, Hyperlordosis, Pectus excavatum, Kyphos... ORPHA:2522
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Hutchinson-Gilford Progeria Syndrome
Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis OMIM:176670
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... ORPHA:91348
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hypothyroidism, Hemoly... OMIM:615846
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Occipital Horn Syndrome
Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca... OMIM:304150
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Cataract, Hydrou... OMIM:222300
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor... OMIM:614653
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Pectus carinatum, Hypoplasia of the ... ORPHA:558
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... ORPHA:1328
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Pectus excavatum, Dil... ORPHA:272
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Multiple pterygia, Symphalangism aff... ORPHA:2990
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Hypoplastic thumbnail, Hypoplastic toenails, Triangular shaped distal phalanx of the thumb, Upper... ORPHA:370010
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig... ORPHA:74
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
O'Sullivan-Mcleod Syndrome
Somatic sensory dysfunction, Eosinophilia, Hand muscle weakness, Tremor, Intrinsic hand muscle at... ORPHA:99965
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint dislocation, Congenital hip dislocation, Microcornea, Joint laxity, Keratoconus... OMIM:225400
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Pterygium... OMIM:305000
Poliomyelitis
Skeletal muscle atrophy, Stiff neck, Hypoplasia of the musculature, Inability to walk, Abnormal s... ORPHA:2912
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH co... OMIM:219080
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Hepatic necrosis,... OMIM:127550
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Short stat... ORPHA:582
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Cerebrotendinous Xanthomatosis
Cataract, Angina pectoris, Ataxia, Myocardial infarction, Tendon xanthomatosis, Osteoporosis, Ank... OMIM:213700
Juvenile Paget Disease
Abnormal clavicle morphology, Bowing of the long bones, Short stature, Recurrent fractures, Crani... ORPHA:2801
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Weight loss, Elevated ... ORPHA:100083
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Dehydration, Weight loss, Arthritis, Cholestatic liver disease, Puncta... ORPHA:92050
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Avascular necrosis, Infectious encephalitis,... ORPHA:117
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Tetanus
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary nor... ORPHA:3299
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasi... ORPHA:100078
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Cataract, Severe short stature, External genital hypoplasia, Ataxia, Cox... ORPHA:559
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Lentiglobus, Pro... ORPHA:191
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosi... ORPHA:3392
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt was... OMIM:601678
Pontocerebellar Hypoplasia, Type 2E
Short stature, Flexion contracture, Osteoporosis, Opisthotonus, Facial telangiectasia, Scoliosis,... OMIM:615851
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfiel... OMIM:214110
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... OMIM:210250
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Cardiac conduction abnormality, Tremor, Chorea, Dehydration, Choreoathe... ORPHA:2131
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Pectu... ORPHA:1979
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Conjugated hyperbilirubinemia, Renal cyst, Atrial septal def... OMIM:614866
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Short stature, Splenomegaly, Vasc... ORPHA:575
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Short stature, Ectopic ki... ORPHA:634
Alpha-Mannosidosis, Infantile Form
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical thickening... ORPHA:309282
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Facial edema, Reduced bone mineral density, Neutropenia, Sparse hair... ORPHA:2909
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Synophrys, Renal cyst, Iris coloboma, Dislocated radial head, Joint laxit... OMIM:102500
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Bicuspid aor... OMIM:130720
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... ORPHA:2849
Nipah Virus Disease
Tremor, Recurrent pharyngitis, Infectious encephalitis, Hypotension ORPHA:99825
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Hepatocellular carcinoma, Splenome... OMIM:232220
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of... OMIM:208900
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Thickened ribs, Abnormal heart valve ... OMIM:230500
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Cataract, Arachnodactyly, Recurrent... ORPHA:394
Juvenile Nephropathic Cystinosis
Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri... ORPHA:411634
Acute Promyelocytic Leukemia
Bone pain, Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Leukocytosis, Lymphadenopathy,... ORPHA:520
Noonan Syndrome 14
Polyhydramnios, Short neck, Pectus carinatum, Sparse hair, Scapular winging, Short stature, Spars... OMIM:619745
Bruck Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... ORPHA:2771
Idiopathic Achalasia
Decreased prealbumin level, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Short stature, Maternal diabetes, Cryptorchidism, Abnormal sacrum m... ORPHA:1988
Aplasia Cutis Congenita
Prolonged bleeding time, Finger syndactyly, Toe syndactyly, Facial palsy, Abnormality of bone min... ORPHA:1114
Vipoma
Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neo... ORPHA:97282
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Horizo... ORPHA:239
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Intrauterine growth retardation... OMIM:620005
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Igg4-Related Pachymeningitis
Abnormality of the cervical spine, Somatic sensory dysfunction, Sinusitis, Low back pain, Eosinop... ORPHA:449427
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Premature ovarian insufficiency, Elevated circulating creatine kinase concent... OMIM:619518
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia, Opisthotonus OMIM:619814
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Abnormal heart valve morphology, Abnormal intervertebral disk morphology, Pulmonary emb... ORPHA:1345
Alg8-Cdg
Hyponatremia, Brachydactyly, Cataract, Small for gestational age, Abnormality of subcutaneous fat... ORPHA:79325
Aa Amyloidosis
Hepatomegaly, Proteinuria, Chronic kidney disease, Cholestasis, Abnormal heart morphology, Nephro... ORPHA:85445
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Impaired pain sensation OMIM:167400
Lymphatic Filariasis
Predominantly lower limb lymphedema, Ankle swelling, Glomerulonephritis, Lymphedema, Orchitis, Ly... ORPHA:2035
Sialidosis Type 1
Skeletal muscle atrophy, Cataract, Corneal opacity, Short stature, Urinary excretion of sialylate... ORPHA:812
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Robinow Syndrome
Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Atrial septal def... ORPHA:97360
Essential Thrombocythemia
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, M... ORPHA:3318
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab... ORPHA:2790
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Lymphedema, Elevated circulating thyroid-stimulating hor... ORPHA:79318
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... OMIM:150250
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contracture, Oligosacch... ORPHA:365
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Ava... ORPHA:740
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual m... OMIM:194050
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal st... ORPHA:35173
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Hypocholesterolemia OMIM:618810
Perry Syndrome
Tremor, Hypotension, Weight loss ORPHA:178509
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... OMIM:611489
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... OMIM:617099
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Overla... OMIM:612394
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Secundum atrial septal defect, Short palm, ... OMIM:249420
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... OMIM:251100
Infant Botulism
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Keratoconjunctivitis sicca, Hypotension, ... ORPHA:178478
Cleidocranial Dysplasia
Sinusitis, Coxa vara, Narrow chest, Clinodactyly of the 5th finger, Chronic otitis media, Decreas... ORPHA:1452
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Osteoporosis
Osteoporosis OMIM:166710
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Cyanosis... ORPHA:31826
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Wrist flexi... ORPHA:1826
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Thoracic kyphosi... ORPHA:508498
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Microcytic anemia, Bone pain, Intestinal bleeding ORPHA:1059
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Pericardial lymphangiectasia, Lymphedema, Osteoporosis, Pulmonary lymphangiectasia, G... OMIM:616006
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Hepatic failure, C... OMIM:118450
Dermatomyositis
Abnormal eosinophil morphology, Myocardial infarction, Edema, Periorbital edema, Inflammatory myo... ORPHA:221
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Mevalonic Aciduria
Elevated circulating creatine kinase concentration, Edema, Elevated circulating C-reactive protei... OMIM:610377
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, De... OMIM:616007
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Increased density of l... OMIM:305620
Plague
Chapped lip, Edema, Lymphadenitis, Acute infectious pneumonia, Inflammation of the large intestin... ORPHA:707
Shashi-Pena Syndrome
Short metacarpal, Unilateral renal agenesis, Accelerated skeletal maturation, Highly arched eyebr... OMIM:617190
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Splenomegaly, Increase... ORPHA:158048
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615271
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In... ORPHA:98848
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Short stature, Delayed skeletal maturation, Clubbing, Osteo... OMIM:615468
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Lymphedema, Atrioventricular... ORPHA:324
Mosaic Trisomy 9
Hypoplasia of penis, Polyhydramnios, Micromelia, Asplenia, Short neck, Abnormal lung lobation, Hy... ORPHA:99776
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgG level, Decreas... OMIM:618495
Osteootohepatoenteric Syndrome
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesic... OMIM:619377
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Nephrotic Syndrome, Type 1
Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Albinism, Impaired ADP-induced platelet ag... OMIM:614075
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Osteopenia, Cyanosis, Hypogonadotropic hypogonadism, Short stature, Bilater... ORPHA:2326
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Hy... ORPHA:436
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... ORPHA:565612
Sifrim-Hitz-Weiss Syndrome
Ambiguous genitalia, Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Sho... OMIM:617159
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... OMIM:145600
Gaucher Disease Type 1
Osteopenia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Biliary tract... ORPHA:77259
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Classical Ehlers-Danlos Syndrome
Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ec... ORPHA:287
Perineural Cyst
Urinary incontinence, Dissociated sensory loss, Neurogenic claudication, Retrograde ejaculation, ... ORPHA:65250
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Cardiomegaly, Synophrys, Abnormal thymus morphology, Lumbar hemivertebrae, Abnormal b... ORPHA:2463
Huntington Disease-Like 1
Chorea, Dysmetria, Weight loss, Abnormal shoulder morphology, Gait ataxia, Gait disturbance, Abno... ORPHA:157941
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Aplastic anemia, Facial edema, Patellar hypoplasia, Neutropenia, S... ORPHA:221016
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Menometrorrhagia, Prolonged bleeding a... ORPHA:98879
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Basal Cell Nevus Syndrome 1
Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma, Vertebral fusion, Car... OMIM:109400
Lathosterolosis
Bilobate gallbladder, Ambiguous genitalia, male, Increased mean platelet volume, Acanthocytosis, ... OMIM:607330
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Small for gestational age, Proteinuria, Congenit... ORPHA:2260
Mohr-Tranebjaerg Syndrome
Tremor, Intrinsic hand muscle atrophy, Increased susceptibility to fractures, Dystonia, Abnormal ... OMIM:304700
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi... OMIM:619127
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical sclerosis, Craniofacial osteos... OMIM:122860
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Enlarged thorax, Multiple renal cysts, Absent or minimall... ORPHA:66637
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Bowing of the legs, ... OMIM:613849
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Dehydration, Growth delay, Nephrocalcinosis, Hypokalemia, Distal renal t... OMIM:602722
Alg3-Cdg
Osteopenia, Cataract, Lipodystrophy, Abnormality of the endocrine system, Metaphyseal chondrodysp... ORPHA:79321
Serotonin Syndrome
Tachycardia, Tremor, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury, Mydriasis ORPHA:43116
Hepatoerythropoietic Porphyria
Osteopenia, Edema, Scarring alopecia of scalp, Abnormal circulating porphyrin concentration, Red-... ORPHA:95159
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Acute colitis, Anuria, Myocardial infarction, Leukocytosis, Schist... ORPHA:90038
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... OMIM:272460
Mesomelia-Synostoses Syndrome
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,... ORPHA:2496
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Dehydration, Hyp... OMIM:251110
Aceruloplasminemia
Diabetes mellitus, Ataxia, Decreased circulating ceruloplasmin concentration, Akinesia, Decreased... ORPHA:48818
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Elevated circul... ORPHA:829
Acute Liver Failure
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Abnormal bleeding, Pain insen... ORPHA:90062
Microphthalmia, Syndromic 3
Vertebral fusion, Cataract, Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadot... OMIM:206900
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Leptospirosis
First degree atrioventricular block, Uveitis, Conjunctival hyperemia, Hepatomegaly, Cellular urin... ORPHA:509
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Abnormal lung morphology, Parapro... ORPHA:91139
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Cryptorchidism, Pectus carinatum, Gait ataxia, 3-Methylglutaconic acid... ORPHA:496790
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Periorbital edema, Uv... ORPHA:32960
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95512
Tenorio Syndrome
Macroglossia, Hypoglycemia, Hypoinsulinemia, Gait disturbance OMIM:616260
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu... ORPHA:42
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Primrose Syndrome
Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c... OMIM:259050
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Gaucher Disease
Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Tremor, Ost... ORPHA:355
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Cinca Syndrome
Joint dislocation, Hepatomegaly, Purpura, Abnormality of thrombocytes, Delayed closure of the ant... ORPHA:1451
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Microcornea, Sparse hair, Tiger tail banding, Decreased circul... OMIM:601675
Leishmaniasis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weig... ORPHA:507
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficien... ORPHA:79408
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Decreased serum thromboxane B2, Bruising suscepti... OMIM:614158
Chops Syndrome
Curly hair, Cataract, Ventricular septal defect, Short stature, Thick hair, Splenomegaly, Cryptor... OMIM:616368
Rhabdoid Tumor
Hypercalcemia, Weight loss, Anemia, Hypertension, Lymphadenopathy, Neoplasm of the liver, Hematur... ORPHA:69077
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Holt-Oram Syndrome
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... ORPHA:392
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Cholangitis, Edema, Short neck, Short metatarsal, Renal cyst, H... OMIM:266920
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Long clavicles, Ventricular septal defect, Diastasis ... OMIM:608149
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea OMIM:233300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... OMIM:174000
Intestinal Dysmotility Syndrome
Cataract, Failure to thrive, Polyhydramnios, Weight loss OMIM:620045
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Hyp... OMIM:128100
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Opisthotonus, Growth delay, Aminoaciduria, Bradycardia, Micropenis, F... OMIM:220120
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level, H... OMIM:620125
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... ORPHA:65759
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydram... ORPHA:367
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Small scrotum, Polyhydramnios, Hypercon... ORPHA:2215
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,... ORPHA:37042
Aicardi Syndrome
Cataract, Block vertebrae, Hepatoblastoma, Proximal placement of thumb, Hiatus hernia, Missing ri... OMIM:304050
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfun... ORPHA:370348
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Aspiration pneumonia, Weight loss ORPHA:141152
Cartilage-Hair Hypoplasia
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, S... OMIM:250250
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate... OMIM:122600
Warburg Micro Syndrome 3
Decreased muscle mass, Cataract, Small scrotum, Kyphoscoliosis, Postnatal growth retardation, Ina... OMIM:614222
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia, Esophagitis OMIM:610247
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Radial deviation of finger, Clinodactyly, Thrombocyto... OMIM:188025
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal cyst, Neutropenia, Vesicoureteral reflux, Joint contracture, Patent f... OMIM:618460
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss, Pulm... ORPHA:1164
Proteus Syndrome
Decreased muscle mass, Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Lymphed... ORPHA:744
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Polyhydramnios, Large for gestational age, Short neck, Flexion contr... ORPHA:96334
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Cataract, Abnormal fingernail morphology, Cachexia, Tapered finger, Lymph... ORPHA:2930
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Corneal opa... ORPHA:3163
Gray Platelet Syndrome
Myelofibrosis, Prolonged bleeding time, Abnormal bleeding, Impaired thrombin-induced platelet agg... OMIM:139090
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased... OMIM:300755
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp... OMIM:607944
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Congenital hip dislocation, Microcornea, Sparse hair, Clinodactyly of the 5th fing... ORPHA:217346
Hallermann-Streiff Syndrome
Metaphyseal widening, Choreoathetosis, Sparse hair, Iris coloboma, Hyperlordosis, Sparse eyebrow,... OMIM:234100
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Menkes Disease
Chorea, Intracranial hemorrhage, Narrow chest, Hernia, Sparse hair, Woolly hair, Osteoporosis, Jo... ORPHA:565
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammati... ORPHA:39812
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... OMIM:620300
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Skin rash, Short stature, Thr... ORPHA:290
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Barrel-shaped chest,... ORPHA:94068
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Aminoaciduria, Severe short stature, Osteoporosis, Muscular dystrophy OMIM:204730
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Slow-growing hair, Meta... ORPHA:3082
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal tibia morphology, Abnormal lung morphology, Abnormal finger morphology, Abno... ORPHA:909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic hypoplasia, He... ORPHA:83617
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Cataract, Reduced systolic function, Failure to thrive in infancy... OMIM:618805
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental... ORPHA:2916
Oculocerebrocutaneous Syndrome
Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Abnormal fingernail mor... ORPHA:1647
Myhre Syndrome
External genital hypoplasia, Epispadias, Short palm, Abnormal penis morphology, Femoral hernia, H... ORPHA:2588
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Tremor, Synophrys, Short palm, Clinodactyly of the 5th finger, S... ORPHA:85293
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Diabetes insipidus, Epistaxis, Sudden cardiac death, Joint sti... ORPHA:397
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Ataxia, Hypogonadotropic hypogonadism, Osteolysis,... ORPHA:35687
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Neurogenic bladder, Block vertebrae, Dextrocardia, Short stature, Missing ribs,... OMIM:613686
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine... OMIM:252930
Sandhoff Disease
Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Ataxia, Urinary incontinence, Exa... OMIM:268800
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cachexia, R... ORPHA:298
Christianson Syndrome
Decreased muscle mass, Dystonia, Cachexia, Pectus excavatum, Abnormal thorax morphology, Gait ata... ORPHA:85278
Thrombocytopenia-Absent Radius Syndrome
Clinodactyly of the 5th finger, Genu varum, Finger syndactyly, Fused cervical vertebrae, Abnormal... ORPHA:3320
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Impaired propriocept... ORPHA:100999
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... ORPHA:1606
Bloom Syndrome
Bronchitis, Adipose tissue loss, Paronychia, Uveitis, Otitis media, Decreased circulating IgG lev... ORPHA:125
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Writer's cramp, Congestive heart failure, Hyper... ORPHA:428
Von Hippel-Lindau Disease
Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Abnormal ... ORPHA:892
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... ORPHA:2311
Occipital Horn Syndrome
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Coarse hair, Narrow chest, Short palm, Ab... ORPHA:198
Chédiak-Higashi Syndrome
Edema, Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymph... ORPHA:167
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Bicarbonaturia, Dehydration, Reduced bone mineral density, Nep... ORPHA:47159
Aapoaiv Amyloidosis
Back pain, Abnormal lung morphology, Paraproteinemia, Left bundle branch block, Sinus bradycardia... ORPHA:439232
Livedoid Vasculopathy
Pedal edema, Hyperhomocystinemia, Ecchymosis, Polycythemia, Leukocytosis, Ischemic stroke, Anemia... ORPHA:542643
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Corneal opacity, External genital hypoplasia, Pneumonia, Tapered finger, Shor... ORPHA:1867
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... OMIM:252940
Enteric Anendocrinosis
Type I diabetes mellitus, Cholestatic liver disease, Portal hypertension, Dehydration ORPHA:83620
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Complex organic ac... ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Broad-based gait, Short stature, ... OMIM:309583
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen, Abnormalit... ORPHA:94059
Greenberg Dysplasia
Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Micromelia, Patchy variation in bone mi... OMIM:215140
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Central hypoth... ORPHA:95427
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... OMIM:226980
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast... OMIM:608836
Multiple Epiphyseal Dysplasia Type 5
Back pain, Abnormal upper limb epiphysis morphology, Delayed proximal femoral epiphyseal ossifica... ORPHA:93311
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Reticulocytopenia, Leukopenia, Neutropenia, Short metacarpal, Tricuspid regurgitation, Short stat... ORPHA:508542
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Fibrochondrogenesis 1
Short neck, Hypoplastic toenails, Hydrops fetalis, Short palm, Clinodactyly of the 5th finger, Me... OMIM:228520
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... OMIM:619991
Adrenomyeloneuropathy
Back pain, Urinary incontinence, Urinary bladder sphincter dysfunction, Adrenocortical abnormalit... ORPHA:139399
De Barsy Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Coxa var... ORPHA:2962
Congenital Sialidosis Type 2
Abnormal EKG, Inguinal hernia, Cataract, Corneal opacity, Hepatomegaly, Edema, Ataxia, Respirator... ORPHA:93400
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... OMIM:305400
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Exocrine pancreatic insufficiency, Steatorrhea, Pan... OMIM:615935
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Back pain, Somatic sensory dysfunction, Kyphoscoliosis, Cervical spondylosis, Gai... ORPHA:199354
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary ... OMIM:600001
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth de... OMIM:608800
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, Cataract, First degree atrioventricular block, Polyhydramnio... OMIM:160900
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h... OMIM:171480
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... OMIM:613673
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urin... OMIM:252900
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental extraction, Albinism, Ocular ... OMIM:614076
Congenital Disorder Of Deglycosylation 1
Chorea, Dysmetria, Hepatic fibrosis, Chondroitin sulfate excretion in urine, Hepatomegaly, Pain i... OMIM:615273
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ... OMIM:156550
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... OMIM:617052
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Increased susceptibility to fractures, Opisthotonus, Wei... ORPHA:216866
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Pectus carinatum, Narrow chest, Hepatic steatosis, Hepatomegaly, Membranoproli... OMIM:619525
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatos... ORPHA:900
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Inc... ORPHA:563
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Uveitis, Conjunctivitis, Emphysema, Hepatomegaly, Ataxia, Pericardial effusion... ORPHA:36412
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Limb ataxia, Cardiomyopathy, Impotence, Posit... OMIM:105210
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Aplasia/Hypoplasia of the d... ORPHA:1234
Acromegaly
Dysmenorrhea, Osteoarthritis, Wide penis, Synophrys, Pituitary prolactin cell adenoma, Abnormal t... ORPHA:963
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance, Abnormality of visual... ORPHA:96
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... ORPHA:427
Mercury Poisoning
Tachycardia, Tremor, Hypertension, Interstitial pneumonitis, Hypokalemia, Hypotension, Dystonia, ... ORPHA:330021
Manganese Poisoning
Decreased female libido, Akinesia, Impotence, Gait disturbance, Decreased male libido ORPHA:306682
Pediatric Systemic Lupus Erythematosus
Myositis, Edema, Leukopenia, Nephritis, Alopecia, Pericardial effusion, Raynaud phenomenon, Lymph... ORPHA:93552
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Short Stature-Micrognathia Syndrome
Small scrotum, Accelerated skeletal maturation, Bowing of the legs, Metaphyseal widening, Gait at... OMIM:617164
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Abnormal lung morphology, Elevated circulating parathyroid hormon... ORPHA:97685
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Adams-Oliver Syndrome
Leukopenia, Absent fingernail, Pulmonary artery atresia, Sparse hair, Finger syndactyly, Alopecia... ORPHA:974
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Sillence Syndrome
Back pain, Abnormal vertebral morphology, Abnormality of the nail, Large tarsal bones, Flat aceta... ORPHA:3168
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Bowing of the lon... OMIM:239000
Mosaic Trisomy 8
Corneal opacity, Camptodactyly of finger, Short stature, Short neck, Cryptorchidism, Limitation o... ORPHA:96061
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Cataract, Short stature, Brittle hair, Increased circulating IgA level, Bilate... OMIM:616395
Cockayne Syndrome A
Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Loss of ... OMIM:216400
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... ORPHA:411629
Tuberculosis
Abnormal lung morphology, Weight loss ORPHA:3389
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... ORPHA:542306
Achondrogenesis Type 1B
Severe short stature, Femoral hernia, Polyhydramnios, Abnormal enchondral ossification, Micromeli... ORPHA:93298
Parathyroid Carcinoma
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating pa... ORPHA:143
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed... OMIM:241530
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Abnormal metatarsal morphology, Flexion contracture, Knee oste... ORPHA:85408
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Ectopic kidney, Synophrys, Pectus carinatum, Long toe, Arachnodactyly, Hyp... ORPHA:3063
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy... ORPHA:173
Chromomycosis
Atypical scarring of skin, Ankylosis, Osteolysis ORPHA:182
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
3-Methylglutaconic Aciduria, Type Viii
Cataract, Dystonia, Tremor, Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic... OMIM:617248
Adrenoleukodystrophy
Alopecia, Urinary incontinence, Primary adrenal insufficiency, Limb ataxia, Impotence, Hypogonadi... OMIM:300100
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Myelofibrosis, Abnormal bleeding, Increased... OMIM:187900
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Thickened ribs, Joint stiffness, Cardiomegaly, Splenomegaly, Heparan sulfate excret... OMIM:252920
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... OMIM:610628
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Short neck, Flexion contracture, Clinodactyly of th... ORPHA:261290
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary... OMIM:306955
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Pterygium of na... OMIM:224230
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Ataxia, Increased hepatocellular lipid ... OMIM:220111
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... OMIM:264700
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Abnormal bleeding, Acute kidney injury, Ataxia, Elevated circulating creat... ORPHA:466650
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Chorea, Xerostomia, Leukopenia... ORPHA:289390
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Cockayne Syndrome Type 2
Hepatomegaly, Ataxia, Scarring, Cryptorchidism, Kyphosis, Flexion contracture, Uveitis, Developme... ORPHA:90322
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Cataract, Small scrotum, Short stature, Tapered fin... ORPHA:127
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to gro... ORPHA:90695
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone c... OMIM:131100
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Tubulointerstitial nephritis, Hepatic fibrosis, Narrow chest, Hypocalcemia... OMIM:218330
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Renal insufficiency, Cataract, Menometrorrhagia, ... ORPHA:79430
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal d... OMIM:618280
Aredyld Syndrome
Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... ORPHA:1133
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... ORPHA:94080
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Edema, Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Sparse hair, Rhizome... OMIM:302960
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Craniofacial hyperostosis, Hypogonadotropic hypogon... ORPHA:3068
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Growth delay, Organi... ORPHA:79242
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Unilateral renal agenesis, Short neck, Abnormal rib morphology, ... OMIM:118100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Bicuspid aortic valve, Aspiration pneumonia, Vesicoureteral reflux, Atrial septal def... ORPHA:438213
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Short stature, Polyhydramnios, Kyphoscoliosis, Hip dislocation, Buphthalmos, Nephroca... OMIM:618005
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... OMIM:180300
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... OMIM:231070
Duane Retraction Syndrome
Skeletal muscle atrophy, Central heterochromia, Aplasia/Hypoplasia of the thumb, Ectopic kidney, ... ORPHA:233
Mcdonough Syndrome
Short stature, Cachexia, Pectus excavatum, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the a... ORPHA:2471
Q Fever
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious encephali... ORPHA:781
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:228308
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration OMIM:614204
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Kaposiform Lymphangiomatosis
Fractures of the long bones, Metrorrhagia, Osteolysis ORPHA:464329
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Short neck, Enlarged thorax, Atriov... ORPHA:251071
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity OMIM:618406
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Hypopl... ORPHA:235
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Widow's peak, Bronchiolitis, Short foot, Periodontitis, R... OMIM:266265
Somatomammotropinoma
Dysmenorrhea, Osteoarthritis, Synophrys, Pituitary prolactin cell adenoma, Abnormal toenail morph... ORPHA:314769
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Hy... ORPHA:90060
Oculodentodigital Dysplasia
Abnormal clavicle morphology, Brittle hair, Abnormal form of the vertebral bodies, Microcornea, C... ORPHA:2710
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Renal insufficiency, Hypopigmentation of hair, Epistaxis, Albinism, Ocul... OMIM:203300
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Aspiratio... ORPHA:444077
Pleural Mesothelioma
Hepatomegaly, Abnormal pleura morphology, Abnormal thorax morphology, Abnormal lung morphology, A... ORPHA:50251
Distal Renal Tubular Acidosis
Hypocitraturia, Bone pain, Dehydration, Reduced bone mineral density, Renal cyst, Nephrocalcinosi... ORPHA:18
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Ectopic kidney, Synophr... OMIM:122470
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial ab... OMIM:240500
Mycetoma
Back pain, Abnormality of the knee, Recurrent bacterial skin infections, Osteomyelitis, Abnormal ... ORPHA:2583
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... OMIM:616812
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L... ORPHA:50918
Acro-Renal-Ocular Syndrome
Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Iris colo... ORPHA:959
Frontometaphyseal Dysplasia 2
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... OMIM:617137
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... ORPHA:325
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Abnormality of ... ORPHA:449432
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, Aminoaciduria, Loss of ambulation, Ulnar deviation of the hand or of fingers ... OMIM:214100
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Polyhydramnios, Sclerocornea, Proximal plac... ORPHA:818
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... OMIM:300855
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Lymphadenitis, Infla... OMIM:615895
Familial Dysautonomia
Hyponatremia, Ataxia, Recurrent fractures, Osteolysis, Gait disturbance ORPHA:1764
Lamellar Ichthyosis
Recurrent respiratory infections, Renal insufficiency, Short stature, Dehydration, Sparse hair, E... ORPHA:313
Grant Syndrome
Joint dislocation, Bowing of the long bones, Short stature, Abnormal cortical bone morphology, Ab... ORPHA:2097
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Cachexia, Clubbing, Xerostomia, Hematochezia, Clubbing of fingers, Hypokalemi... OMIM:175500
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... OMIM:601399
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Genu valgum, Small pituitary gland,... OMIM:614880
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Atelosteogenesis, Type I
Polyhydramnios, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Vert... OMIM:108720
Loeys-Dietz Syndrome 3
Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum mo... OMIM:613795
X Small Rings
Joint laxity, Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Premature ovarian... ORPHA:96201
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Vesicouret... OMIM:607323
Trisomy 18
Congenital diaphragmatic hernia, Microcornea, Hernia, Atrial septal defect, Abnormal toenail morp... ORPHA:3380
Meier-Gorlin Syndrome 1
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, P... OMIM:224690
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Wiedemann-Rautenstrauch Syndrome
Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General... OMIM:264090
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Gracile Bone Dysplasia
Failure to thrive, Short stature, Asplenia, Flared metaphysis, Thin ribs, Micropenis, Ascites, Hy... OMIM:602361
Agel Amyloidosis
Cataract, Proteinuria, Facial palsy, Edema, Ataxia, Respiratory tract infection, Xerostomia, Stag... ORPHA:85448
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... ORPHA:79155
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neonatal short-li... ORPHA:50945
Rubinstein-Taybi Syndrome 1
Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, Flexion contracture, Low anterior ... OMIM:180849
Nail-Patella Syndrome
Ridged nail, Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor mus... OMIM:161200
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Nonimmune hydrops fetalis, Recurrent fractures, Beaded ribs, Multiple ... OMIM:166210
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Toe syndactyly, Hypospadias, Severe short stature, Highly arched eye... ORPHA:2319
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Recurrent respiratory infections, Renal insufficiency, ... ORPHA:36426
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Huntington Disease-Like 2
Chorea, Dystonia, Gait disturbance, Weight loss ORPHA:98934
Leydig Cell Hypoplasia
Abnormal internal genitalia, Decreased serum testosterone concentration, Hypospadias, Abnormal ex... ORPHA:755
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... ORPHA:793
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Dysesthesia, Dysmetria, Gait ataxia, Hypertension, Impotence, Pollakisuria, Gait disturba... ORPHA:93256
Lymphoid Interstitial Pneumonia
Hepatomegaly, Multiple pulmonary cysts, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lympha... ORPHA:79128
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to gro... ORPHA:95494
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Otitis m... ORPHA:420741
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... ORPHA:289157
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentrati... OMIM:154230
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Jeune Syndrome
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Short stature, Micromelia, Pos... ORPHA:474
Encephalitis Lethargica
Stiff neck, Urinary incontinence, Tremor, Upper limb muscle weakness, Limb pain, Increased circul... ORPHA:83600
Kbg Syndrome
Vertebral fusion, Syndactyly, Short stature, Short neck, Epispadias, Delayed skeletal maturation,... OMIM:148050
Down Syndrome
Joint laxity, Cataract, Sandal gap, Impaired pain sensation, Short neck, Abnormality of the lymph... ORPHA:870
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217085
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated creatine kinase after exercise, Dicarboxylic aciduria, Sudden cardiac death, Elevated ci... ORPHA:99901
Wildervanck Syndrome
Facial palsy, Short neck, Low posterior hairline, Fused cervical vertebrae, Lens subluxation ORPHA:3456
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity ORPHA:369837
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placeme... ORPHA:1120
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Alopecia, Clinodactyly ... OMIM:261990
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Tapered fi... OMIM:616801
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Cataract, Elevated circulating creatine kinase concentration, Achilles t... OMIM:615418
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ... ORPHA:1272
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Weill-Marchesani Syndrome 2
Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Short st... OMIM:608328
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short... ORPHA:363417
Cowden Syndrome 1
Hyperthyroidism, Cataract, Pectus excavatum, Kyphosis, Thyroiditis, Decreased circulating antibod... OMIM:158350
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Posterior subca... OMIM:602668
Charge Syndrome
Decreased response to growth hormone stimulation test, Polyhydramnios, External genital hypoplasi... OMIM:214800
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair... OMIM:300232
Adrenocortical Carcinoma
Increased body weight, Adrenocortical carcinoma, Abnormality of reproductive system physiology, I... ORPHA:1501
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Short stature, Recurrent fractures, Polyhydramnios, Short neck, Limitati... ORPHA:1486
Mesomelic Dysplasia, Kantaputra Type
Short stature, Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal r... ORPHA:1836
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... ORPHA:217093
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,... OMIM:137920
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Cardiomegaly, Short neck, Hydrops fetalis, Femoral bowing, Hypopl... OMIM:617022
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Hyperparathyroidism-Jaw Tumor Syndrome
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating pa... ORPHA:99880
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Arthrogryposis mu... ORPHA:254346
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Narcolepsy 7
Narcolepsy, Type II diabetes mellitus OMIM:614250
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ca... ORPHA:79345
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology OMIM:215250
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Hepatosplenomega... ORPHA:2072
Rhyns Syndrome
Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo... OMIM:602152
Trisomy 1Q
Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Ventricular septal defect, Camptodacty... ORPHA:261344
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... OMIM:619131
Melnick-Needles Syndrome
Narrow chest, Vesicoureteral reflux, Anisospondyly, Short stature, Short thorax, Abnormal rib mor... ORPHA:2484
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Polyhydramnios, Clinodactyly of the 5th finger, Atrial septal defect, Hypospadias, Ataxia, Tapere... ORPHA:459070
Gm1 Gangliosidosis Type 1
Spatulate ribs, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies, Abnormal odontoi... ORPHA:79255
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking ORPHA:529665
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Renal insufficiency, Cataract, Pneumothorax, Renal cyst, Opisthotonus, Growth ... ORPHA:445038
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Osteopenia, Pancytopenia, Cataract, Corneal opacity, Pneumonia, Ataxia, Hep... ORPHA:309288
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Arthrogryposis mu... ORPHA:994
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Joint laxity, Arachnodactyly, Osteoporosis... ORPHA:284984
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Diabetes mellitus, Osteoporosis, Cataract OMIM:601811
Congenital Myopathy 9A
Cryptorchidism, Akinesia OMIM:618822
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Lar... ORPHA:100050
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Clubbing of toes, Weight loss, Ascites ORPHA:2198
Fusariosis
Myositis, Fasciitis, Sinusitis, Abnormality of the spleen, Paronychia, Abnormality of the liver, ... ORPHA:228119
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Iris coloboma, Cervical C5/C6 vertebrae fusion OMIM:613702
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Prolonged bleeding time, Odontodysplasia, Grayish enamel... ORPHA:49042
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Pancytopenia, Cataract, Telangiectasia of the skin, Hypoplasia of penis, Short sta... ORPHA:85321
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Periorbital edema, Leukocytosis, Cervical lymphadenopat... ORPHA:514
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Osteoporosis, Dentinogenesis imperfecta, Short stature ORPHA:71267
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Inguinal hernia, Cataract, Rhizomelia, Decreased circulating plasmalog... OMIM:222765
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Severe short stature, Proteinuria, Cachexia... OMIM:610965
Congenital Myopathy 12
Akinesia, Jaw contracture, Abnormal circulating creatine kinase concentration, Camptodactyly, Joi... OMIM:612540
Cranioectodermal Dysplasia 2
Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, Narrow chest, Atrial septal... OMIM:613610
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... ORPHA:1436
Renal Tubular Dysgenesis
Anuria, Pulmonary hypoplasia, Hypotension, Widely patent fontanelles and sutures, Oligohydramnios OMIM:267430
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Microcornea, Pachygyria, Long hallux, Iris col... ORPHA:2308
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... OMIM:619381
Cat-Eye Syndrome
Short stature, Abnormal rib morphology, Intrauterine growth retardation, Iris coloboma, Hydroneph... ORPHA:195
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... OMIM:616113
Meningioma
Back pain, Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolac... ORPHA:2495
X-Linked Acrogigantism
Increased body mass index, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level,... ORPHA:300373
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep... OMIM:232240
46,Xx Gonadal Dysgenesis
Osteopenia, Reduced bone mineral density, Decreased serum estradiol, Aplasia/hypoplasia of the ut... ORPHA:243
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... ORPHA:2876
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Diaphragmat... OMIM:601186
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Sudd... ORPHA:537
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestati... OMIM:229850
Alkaptonuria
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Aortic valve calcificat... OMIM:203500
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Short stature, Increased se... OMIM:252600
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Xerostomi... OMIM:617321
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Hepatomegaly, Hypoplastic fingernail, Neonatal insulin-dependent diabetes mellitus,... ORPHA:96191
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Polyhydramnios, Cong... ORPHA:887
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Primary Biliary Cholangitis
Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Increased... ORPHA:186
Degcags Syndrome
Osteopenia, Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematu... OMIM:619488
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Hypospadias, Akinesia OMIM:619334
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec... ORPHA:42642
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... OMIM:251880
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Femoral hernia, Recurrent fractures, Polyhydramnios... ORPHA:93299
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... ORPHA:1488
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Nodular regenerative hyperpl... ORPHA:64743
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Esophagitis, Abnormal posturing, Anemia, Decreased cervi... ORPHA:71272
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Adult Krabbe Disease
Acroparesthesia, Somatic sensory dysfunction, Ataxia, Urinary incontinence, Broad-based gait, Upp... ORPHA:206448
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Microcytic anemia, Low anterior hairline, Abnormal isohemagglutinin level, ... ORPHA:99843
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Absent external genitalia, Shor... OMIM:271520
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... OMIM:270400
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Bowed humerus, Recurrent fractures, Thin long bone diaphyses... OMIM:616507
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Severe short stature, Missing ribs, Hyperlordosis, Short neck, ... ORPHA:1797
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Proportionate short stature, Thin cla... OMIM:244460
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Angina pectoris, Short stature, Cachexia... ORPHA:109
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hyperalaninemia, Inguinal hernia, Cataract, Small for gestational age, Hypospadias, Ataxia, Tremo... OMIM:614052
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Low posterior hairline, Fused cervical vertebrae, Scoliosi... OMIM:214300
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Hypospadias, Facial palsy, Polyhydramnios, Increased connective tissue, ... ORPHA:171430
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Urinary incontinence, Action tr... OMIM:300623
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... OMIM:260400
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Short stature, Micromelia, Craniosynostosis, Abnormality of the... ORPHA:2145
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Congenital malformatio... ORPHA:3455
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Eczema, Abnormal preputiu... ORPHA:2907
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Ambiguous genitalia, Cataract, Small for gestational age, Hypospadias, Short statu... OMIM:257300
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... ORPHA:464321
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... ORPHA:48435
Glossopharyngeal Neuralgia
Dysesthesia, Jaw claudication, Weight loss, Syncope, Bradycardia, Abnormality of the cervical spine ORPHA:221098
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morp... ORPHA:2636
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly... OMIM:618935
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Polyhydramnios, Postaxial polydactyly, Lateral clavicle hook, C... OMIM:615633
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... ORPHA:93357
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteoporosis, Micropenis, Clinodactyly, Decreased testicular size OMIM:614838
Renal Hypoplasia
Renal insufficiency, Urethral valve, Small for gestational age, Proteinuria, Unilateral renal age... ORPHA:93101
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... ORPHA:275
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Po... ORPHA:3472
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomegaly, Portal... ORPHA:53035
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Clinodactyly of the 5th finger, Rad... OMIM:210720
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Short neck, Elevated circulating parathyro... ORPHA:94089
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Osteoarthritis, Bone pain, Uveitis, Pectus carinatum,... ORPHA:828
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ... OMIM:185070
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Angular cheilit... ORPHA:35858
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Skeletal muscle atrophy, Ataxia, Urinary incontinence, Cachexia, Head titubation,... ORPHA:300605
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... ORPHA:99879
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Tarsal synostosis, Elevated circulating luteinizing hormone level... OMIM:609441
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Polyhydramnios, Proximal placement of thumb, Short neck, Knee fl... ORPHA:3103
Autosomal Recessive Malignant Osteopetrosis
Tremor, Bone pain, Reduced bone mineral density, Narrow chest, Hypocalcemia, Otitis media, Hepato... ORPHA:667
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Diabetes mellitus, Ataxia ORPHA:1215
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Somatic sensory dysfunction, Increased circulating ACTH level, Impotence, Adr... ORPHA:43
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Episodic hyperhidrosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Flexion contracture, Bone cyst, Osteolysis, Hypogonadi... ORPHA:3042
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Vesicoureteral reflux, Patent foramen oval... OMIM:157800
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Micropenis, Syndactyly, Ataxia, Nephrogenic diabetes insipidus, Obesity, Postax... OMIM:209900
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Cataract, Facial palsy, Hypoplasia of the musculature, Weakness of facia... OMIM:254940
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Adrenal pheochromocytoma, Positive regitine blocking test, Extraadrenal pheochromocytoma,... ORPHA:29072
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... ORPHA:90363
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti... OMIM:120100
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... OMIM:275000
Gamma-Heavy Chain Disease
Osteolysis, Rheumatoid arthritis ORPHA:100026
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Ectopic kidney, Short neck, Abnormal rib morphology, Low posterior hairline, Azoos... ORPHA:2578
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Abnormal pericardium morphology, Acute colitis, Congestive heart fai... ORPHA:67
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Bartter Syndrome Type 4
Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Increased circulating renin le... ORPHA:89938
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... OMIM:617952
Saul-Wilson Syndrome
Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Short stature, Coxa valga, Pectus... OMIM:618150
Singleton-Merten Syndrome 1
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Joint subluxation, Muscle fiber at... OMIM:182250
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Delayed skeletal maturation, Elevate... OMIM:218700
Silver-Russell Syndrome
Abnormality of male external genitalia, Decreased muscle mass, Failure to thrive in infancy, Sand... ORPHA:813
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Pure Autonomic Failure
Orthostatic hypotension, Urinary incontinence, Dysuria, Abnormality of circulating catecholamine ... ORPHA:441
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... ORPHA:268261
Huntington Disease
Dystonia, Inability to walk, Chorea, Weight loss, Abnormal circulating cholesterol concentration,... ORPHA:399
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... OMIM:614921
Spinocerebellar Ataxia Type 42
Resting tremor, Psoriasiform dermatitis, Urinary incontinence, Upper limb postural tremor, Unstea... ORPHA:458803
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Polyhydramnios, Short neck, Synophrys, Flexion contracture, Generalized amyot... OMIM:620369
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Dry hair, Mild postnatal growth retardation, Flexion contracture, Microc... ORPHA:90324
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Recurrent vulvovaginal candidiasis, Hypothyroidism, Hepatome... OMIM:614162
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level OMIM:620126
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Cataract, Autoimm... ORPHA:36913
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Gonadal calcification, Increased circulating surfactant prot... ORPHA:60025
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... OMIM:618187
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va... OMIM:250420
Gaucher Disease Type 3
Increased bone mineral density, Ataxia, Osteolysis, Increased susceptibility to fractures, Gait d... ORPHA:77261
Lamb-Shaffer Syndrome
Ataxia, Mild postnatal growth retardation, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis ORPHA:530983
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build OMIM:613662
Poland Syndrome
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Dextrocardia,... OMIM:173800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cataract, Multicystic kidney dysplasia, Polyhydramnios, Missing ri... ORPHA:3301
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Hypocalcemic tetany, Postnatal growth retarda... ORPHA:93324
Idiopathic Hypercalciuria
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... ORPHA:2197
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Abnormal... ORPHA:767
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Short stature, Growth delay, Talipes equinovarus, Camptodactyly, Cervical C2/C3 vertebral fusion,... OMIM:617333
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadism, Absence of pubertal development OMIM:615267
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Cataract, Short stature, Abnormal dental enamel morphology, Myopathy, Abnorma... ORPHA:2238
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Porphyria, Congenital Erythropoietic
Osteopenia, Osteolysis, Corneal scarring, Atypical scarring of skin, Elevated circulating uroporp... OMIM:263700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Arachnodactyly, Short stature, Cachexia, Short neck, Elbow flexion contracture, ... ORPHA:371364
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Hemivertebrae, Knee flexi... OMIM:151050
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... OMIM:259900
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Ataxia, Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfu... OMIM:169500
Pagod Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmona... ORPHA:991
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vascu... OMIM:617718
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo... ORPHA:3206
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Inguinal hernia, Syndactyly, Down-sloping shoulders, Proportionate short statur... OMIM:227330
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hepatocellular ... ORPHA:440437
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty OMIM:615270
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of th... ORPHA:1666
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pain insensitivity, Cataract, Telangiectasia of the skin, Abnormal p... ORPHA:679
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Growth delay, Hyperactive renin-angiote... OMIM:214700
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... OMIM:309000
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fracture... OMIM:259440
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Abnormal lung lobation... ORPHA:958
Methylmalonyl-Coa Epimerase Deficiency
Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystine... OMIM:251120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Cataract, Agyria, Elevated circulating cre... OMIM:253800
Aicardi Syndrome
Block vertebrae, Missing ribs, Hiatus hernia, Precocious puberty, Rib fusion, Small hand, Multipl... ORPHA:50
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cataract, Ataxia, Elevated circulating creatine kinase concentration, Tremo... ORPHA:79095
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Cataract, Foot joint contracture, Ventricular septal defect, Severe short statur... ORPHA:444072
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Short s... OMIM:259720
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Abnormal salivary glan... OMIM:181000
Microphthalmia With Limb Anomalies
Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig... ORPHA:1106
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Urinary incontinence, Impaired vibration sensation in the lower limbs... ORPHA:100993
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Polyhydramnios, Centrally nucleate... ORPHA:169189
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... OMIM:615745
Oculodentodigital Dysplasia
Dry hair, Uveitis, Microcornea, Joint contracture of the 5th finger, Sparse hair, Atrial septal d... OMIM:164200
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Elevated circulating creatine kinase concentration, Polyhydramnios, Ce... OMIM:615368
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Abnormal bleeding, Anemia of ... ORPHA:86839
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspira... ORPHA:2020
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Becker Nevus Syndrome
Lipoatrophy, Micromelia, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphol... ORPHA:64755
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... OMIM:608710
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Weight los... ORPHA:545
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Urinary incontinence, Chorea, Recurrent upper respiratory tract infections, Titub... ORPHA:225147
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguous genitalia, Tetralog... ORPHA:276422
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo... OMIM:240300
Bloom Syndrome
Clinodactyly of the 5th finger, Decreased circulating IgG level, Hepatic steatosis, Syndactyly, C... OMIM:210900
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipomas ORPHA:2396
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,... ORPHA:331235
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Opisthotonus, Hypoplas... OMIM:269150
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Short stature... OMIM:259770
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Short statur... ORPHA:251066
Septopreoptic Holoprosencephaly
Precocious puberty, Perisylvian polymicrogyria, Abnormal rib morphology, Anterior hypopituitarism... ORPHA:280195
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of the menstrual cycle, Genital hernia, Cystocele, Osteoarthritis, D... ORPHA:285
Papillon-Lefèvre Syndrome
Cigarette-paper scars, Osteolysis ORPHA:678
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Juvenile Huntington Disease
Broad-based gait, Ataxia, Chorea, Gait ataxia, Weight loss, Progressive cerebellar ataxia, Dystonia ORPHA:248111
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Back pain, Neurogenic bladder, Somatic sensory dysfunction, Low bac... ORPHA:79093
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short metatarsal, Short phalanx o... OMIM:619636
Neurofibromatosis Type 1
Multiple lipomas, Pheochromocytoma, Heterochromia iridis, Genu varum, Short stature, Ataxia, Abno... ORPHA:636
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Tubuloi... ORPHA:91500
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Orthostatic Hypotension 2
Hypoglycemia, Anemia OMIM:618182
Thrombocytopenia 6
Myelofibrosis, Spontaneous, recurrent epistaxis, Abnormal bleeding, Osteoporosis, Thrombocytopenia OMIM:616937
Rat-Bite Fever
Back pain, Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocard... ORPHA:31205
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypoplasia, Kn... OMIM:609945
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Resting tremor, Cataract, Hypergonadotropic hypogonadism, Facial palsy, ... OMIM:157640
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Inhalational Anthrax
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology ORPHA:247257
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Lymphopenia OMIM:605309
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricus... ORPHA:1507
Maternal Uniparental Disomy Of Chromosome 2
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... ORPHA:96179
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Cataract, Corneal opacity, Arachnodactyly, Short stature, Ureteral stenosis, Abn... ORPHA:2719
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Generalized Arterial Calcification Of Infancy
Adrenal calcification, Edema, Cardiomegaly, Polyhydramnios, Hydrops fetalis, Abnormal calcificati... ORPHA:51608
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly... ORPHA:3035
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Polyhydramnios, Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe l... OMIM:151210
Monosomy 9Q22.3
Cataract, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Pectus excavatum, Acceler... ORPHA:77301
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Thyroiditis, Scler... ORPHA:2137
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Progeroid Short Stature With Pigmented Nevi
Thoracic scoliosis, Diabetes mellitus, Bicuspid aortic valve, Lack of facial subcutaneous fat, Sm... OMIM:176690
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Corneal erosion, ... ORPHA:87
Nocardiosis
Liver abscess, Lymphadenitis, Conjunctivitis, Emphysema, Infectious encephalitis, Brain abscess, ... ORPHA:31204
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Adrenocort... ORPHA:100079
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:276621
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Arachnodactyly, Polyhydramnios, Missing ribs, Abnormal rib morp... ORPHA:2759
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Osteopenia, Hyponatremia, Congenital hip dislocation, Cataract, Splenomegaly, Inabili... OMIM:617913
Glass Syndrome
Inguinal hernia, Broad-based gait, Facial hypotonia, Anterior tibial bowing, Arachnodactyly, Shor... OMIM:612313
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Tapered finger, Precocious puberty, Hyperlordosis, Myopic astigmati... OMIM:301066
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness ORPHA:1216
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Decreased muscle mass, Postnatal growth retardation, Abnormal thorax morphology, Me... ORPHA:73230
Hallermann-Streiff Syndrome
Uveitis, Reduced bone mineral density, Rib exostoses, Clinodactyly of the 5th finger, Sparse hair... ORPHA:2108
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Leukopenia, Hypocalcemia, Hepatomegaly, Short... ORPHA:2785
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Osteolysis, Hypothyroidism, Vaginal neoplasm ORPHA:1052
Weill-Marchesani Syndrome 1
Thin bony cortex, Cataract, Ventricular septal defect, Short stature, Proportionate short stature... OMIM:277600
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Bone pain, Weight ... OMIM:256700
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislo... OMIM:182212
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... OMIM:135100
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Castleman Disease
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleuki... ORPHA:160
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... OMIM:309620
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Dystonia, Small for gestational age, Failure to thrive in infancy, Hypospadias,... OMIM:618891
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Hyperparathyroidism, Wide cranial sutures, Recurrent fractures, Poly... OMIM:618188
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Pulmonary hypoplasia, C... OMIM:601163
Short-Rib Thoracic Dysplasia 12
Edema, Polyhydramnios, Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Short pa... OMIM:269860
Lynch Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hepatocellular ... ORPHA:144
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Lymphedema, Short neck, Abnormal sternum morphology, Atrial sep... OMIM:163950
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Panhypogammaglobuli... OMIM:307200
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... OMIM:617405
Japanese Encephalitis
Hyponatremia, Skeletal muscle atrophy, Stiff neck, Genu recurvatum, Facial palsy, Neutrophilia, T... ORPHA:79139
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Hypoplasia of the iris, Hypoalbuminemia, Pachygyria, Short stature, ... OMIM:251300
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Rett Syndrome
Skeletal muscle atrophy, Dystonia, Short stature, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, ... OMIM:312750
Zygomycosis
Fasciitis, Diabetes mellitus, Osteolysis, Cellulitis ORPHA:73263
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Obesity, Hemivertebrae, A... ORPHA:2180
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Polyhydramnios, Flexion contracture, 2-3 toe syndactyly, Facial... OMIM:618186
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Inguinal hernia, Failure to thrive, Cataract, Sacral dimple, Polyhydramnios, Pachygy... OMIM:247200
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... ORPHA:860
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Hepatoblastoma, Broad ribs, ... ORPHA:798
Glucose-Galactose Malabsorption
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Hyperna... ORPHA:35710
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Cryptococcosis
Osteomyelitis, Prostatitis, Osteolysis ORPHA:1546
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Abnormal skin adnexa morphology, Raynaud phenomenon, Vasculit... ORPHA:90289
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation concentrati... ORPHA:309854
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoal... ORPHA:2494
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Skin rash, Vasculitis, Osteoporosis, Increased serum zinc OMIM:601979
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Kindler Epidermolysis Bullosa
Urethral stricture, Flexion contracture, Inflammation of the large intestine, Colitis, Conjunctiv... ORPHA:2908
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Cryptorchidism, Kyphosis, Dy... ORPHA:1724
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Multiple joint d... OMIM:618395
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad... ORPHA:52901
Mucopolysaccharidosis, Type X
Aortic regurgitation, Irregular acetabular roof, Beaking of vertebral bodies, Thickened aortic va... OMIM:619698
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl... OMIM:126550
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations, Goiter OMIM:188580
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Craniosynostosis, Ri... ORPHA:261197
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Emphysema... OMIM:613658
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Exaggerated startle response, Lumbar hyperlordosis, Opisthotonus,... OMIM:184850
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Long clavicles, Seborrheic dermatitis, Pectus excavatum, Limitation of j... OMIM:259100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexio... OMIM:619708
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... ORPHA:90340
Thymic Neuroendocrine Tumor
Osteopenia, Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, ... ORPHA:97289
Ivic Syndrome
Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,... ORPHA:2307
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Iris atrophy, Ataxia, Urinary incontinence, Tre... OMIM:146500
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Lymphedema, Abnormality of the spleen, Abnormal lung morp... ORPHA:33276
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... OMIM:147750
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Polyhydramnios, Cervical kyphosis, Delayed epiphyseal... OMIM:114290
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Rhabdomyolysis, Dehydration OMIM:602199
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Narrow chest... OMIM:613848
Hennekam Syndrome
Mild postnatal growth retardation, Lymphedema, Ectopic kidney, Hydrops fetalis, Narrow chest, Hyp... ORPHA:2136
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, We... ORPHA:133
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Aspartylglucosaminuria
Vacuolated lymphocytes, Hernia, Neutropenia, Joint laxity, Hepatomegaly, Acne, Short stature, Del... OMIM:208400
Isaacs Syndrome
Calf muscle hypertrophy, Distal sensory impairment, Weight loss ORPHA:84142
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Thin ribs, Decreased calvarial ossifi... OMIM:618265
Pneumocystosis
Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Hyp... ORPHA:723
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Cryptorchidism, Decreased serum insulin-like growth fact... ORPHA:314389
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Waddling gait, Hyperphosphaturia, Short stature, Osteoma... ORPHA:157215
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pe... OMIM:614437
Xeroderma Pigmentosum
Conjunctival telangiectasia, Craniofacial hyperostosis, Alopecia, Cataract, Telangiectasia of the... ORPHA:910
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Tarsal synostosis, Camptodactyly of finger, Elbow dislocation, ... ORPHA:3250
Norrie Disease
Diabetes mellitus, Aplasia/Hypoplasia of the lens, Corneal opacity, Sclerocornea, Cachexia, Catar... ORPHA:649
Leprosy
Skeletal muscle atrophy, Impaired temperature sensation, Abnormality of the spleen, Dissociated s... ORPHA:548
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating i... ORPHA:85410
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Centrally nucleated skelet... OMIM:300219
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... ORPHA:227990
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Nephr... ORPHA:223
Primary Fanconi Renotubular Syndrome
Bone pain, Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic ricket... ORPHA:3337
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, P... ORPHA:29207
Cln5 Disease
Ataxia, Inability to walk, Unsteady gait, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Abnormal... ORPHA:228360
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hyperalaninemia, Hypothyroidism, Akinesia OMIM:619147
Spondyloocular Syndrome
Osteopenia, Lymphedema, Pectus carinatum, Atrial septal defect, Dysplastic aortic valve, Long toe... OMIM:605822
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Cataract, Flexion contracture, Corneal scarring, Growth delay, Atrophic scars, Conjunct... OMIM:226600
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Angina pectoris, Epistaxis, Portal hype... ORPHA:729
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Delayed skeletal maturation, Decrease... OMIM:618165
Fibrochondrogenesis
Omphalocele, Hypoplastic fingernail, Hypoplastic scapulae, Short stature, Camptodactyly of finger... ORPHA:2021
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... ORPHA:83469
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Incisional hern... OMIM:154700
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Bowing of the legs, Abnormal... OMIM:200600
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... ORPHA:89936
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno... ORPHA:93941
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Type II diabetes mellitus OMIM:604121
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe... ORPHA:227982
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Edema, Rickets, Osteoporosis, Weight loss, Growth delay, Iron deficiency anemia, Ke... ORPHA:309031
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Sh... ORPHA:199
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia OMIM:619911
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Calf muscle hype... OMIM:313200
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abno... ORPHA:2519
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Cataract, Toe syndactyly, Hypoplasia... ORPHA:46059
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Spinocerebellar Ataxia 48
Ataxia, Urinary incontinence, Cachexia, Tremor, Chorea, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Cowden Syndrome
Abnormality of the uterus, Conjunctival hamartoma, Abnormal penis morphology, Endometrial carcino... ORPHA:201
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Synophrys, Abnormal lung lobation, Atrial septal defect, C... OMIM:607872
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Diencephalic Syndrome
Cachexia, Long penis, Large hands, Decreased body weight, Abnormality of the hypothalamus-pituita... ORPHA:1672
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph... OMIM:208500
Idiopathic Bronchiectasis
Cachexia, Myocardial infarction, Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis... ORPHA:60033
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Joint stiffness, Cryptorchidism,... ORPHA:1300
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Sclerocornea, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee... OMIM:600920
Chikungunya
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... ORPHA:324625
Cole-Carpenter Syndrome 2
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus excavatum, Postnatal... OMIM:616294
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Limb dystoni... ORPHA:2388
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand,... OMIM:200980
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Three M Syndrome 2
Scapular winging, Severe short stature, Small for gestational age, Short stature, Lumbar hyperlor... OMIM:612921
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Edema, Hypocalcemia, Nephrotic range p... ORPHA:544482
Narcolepsy 3
Narcolepsy OMIM:609039
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Omphalocele, Joint laxity, Inguinal hernia, Long toe, Overlapping toe, Diastasis recti, Polyhydra... ORPHA:254528
Huntington Disease-Like 2
Chorea, Dystonia, Action tremor, Weight loss OMIM:606438
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Cystic Fibrosis
Male infertility, Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor p... OMIM:219700
Friedreich Ataxia
Diabetes mellitus, Ataxia, Limb ataxia, Gait ataxia, Abnormality of visual evoked potentials OMIM:229300
Charge Syndrome
Bifid scrotum, Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mine... ORPHA:138
Narcolepsy 1
Narcolepsy OMIM:161400
Parkinson Disease 17
Akinesia OMIM:614203
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Cataract, Hypoplastic right heart, Kyphosco... OMIM:617403
Focal Myositis
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh... ORPHA:48918
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Glycosuria OMIM:606824
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Arachnodactyly, Cachexia, Joint stiffness ORPHA:1144
Zttk Syndrome
Unilateral lung agenesis, Flexion contracture, Hemivertebrae, Atrial septal defect, Absent gallbl... OMIM:617140
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Gait disturbance, Vertebral compression f... ORPHA:85193
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Short stature, Anterior rib cupping, Hyperechogenic pancreas, Th... OMIM:617941
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Short metacarpal, Bowing of the long bones, Corneal opacity, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Amish Lethal Microcephaly
Hepatomegaly, Limitation of joint mobility, Osteoporosis, Organic aciduria, Lissencephaly, Decrea... ORPHA:99742
Alkaptonuria
Joint dislocation, Intervertebral disk calcification, Mitral valve calcification, Abnormal heart ... ORPHA:56
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Abn... ORPHA:2273
Tyrosinemia, Type I
Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Ascites, Anemia... OMIM:276700
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Synophrys, Low anterior hairline, Atrial septal defect, ... OMIM:613458
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Atrial septal defect, Short tibia, Micropenis, Hepatomega... OMIM:620076
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Ataxia, Elevated circulating creatine kinase concentration ORPHA:1933
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Vulval varicose vei... ORPHA:71273
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Alopecia, Phimosis, Urinary bladder inflammation, Flexion contracture, X... ORPHA:99921
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... OMIM:224300
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Nephroblastoma
Lymphadenopathy, Weight loss, Hypertension, Neoplasm of the liver, Neoplasm of the lung, Hematuri... ORPHA:654
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Legius Syndrome
Cataract, Short stature, Acute monocytic leukemia, Dystonia, Non-small cell lung carcinoma, Parox... ORPHA:137605
Kawasaki Disease
Abnormality of nail color, Edema, Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyn... ORPHA:2331
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Del... ORPHA:93325
Xylt1-Cdg
Joint dislocation, Joint laxity, Hepatomegaly, Acne, Short stature, Accelerated skeletal maturati... ORPHA:370930
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Lymphadenopathy, Macrogl... ORPHA:2221
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... ORPHA:97280
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay... ORPHA:75233
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Unilateral renal agenesis, Pectus excavatum, Muscular ventricular septal defect, L... OMIM:619227
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive, Di... OMIM:304800
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance OMIM:606693
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Abnormal bleeding, Short stature, Cachexia, Abnor... ORPHA:79076
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Sclerocorne... OMIM:216340
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Hype... OMIM:125800
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Hemivertebrae, Micropenis, Dy... OMIM:134780
Sotos Syndrome
Ureteral duplication, Accelerated skeletal maturation, Tremor, Flexion contracture, Pedal edema, ... ORPHA:821
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Kyp... OMIM:619718
Osteopathia Striata With Cranial Sclerosis
Polyhydramnios, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger,... OMIM:300373
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Hypovolemia, Dehydration ORPHA:2290
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Abnormal tendon mo... ORPHA:391665
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Ataxia, Difficulty walking ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials, Unsteady gait, Claw hand deformity, Gait disturbance OMIM:601455
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Short stature, Failure to thrive in infancy, Cachexia, Joint st... ORPHA:702
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Flexion contracture, Thin ribs, Lissencephaly, Decreased body weight, Mild short s... OMIM:614833
Alexander Disease Type I
Scoliosis, Failure to thrive, Ataxia, Cachexia ORPHA:363717
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Calcan... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, ... ORPHA:261552
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Hypocalcemic seizures, Decreased cir... OMIM:612301
Relapsing Polychondritis
Large vessel vasculitis, Uveitis, Conjunctivitis, Chondritis, Alopecia, Atelectasis, Hepatitis, S... ORPHA:728
Ruvalcaba Syndrome
Inguinal hernia, Cryptorchidism, Delayed puberty, Abnormality of visual evoked potentials, Synost... ORPHA:3121
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... ORPHA:562639
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Calcan... ORPHA:2152
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disp... OMIM:608681
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Joint contracture, Akinesia OMIM:225790
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... OMIM:612286
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ... ORPHA:64744
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Hyperalaninemia, Akinesia, Truncal ataxia OMIM:618249
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Eczema, Band keratopat... OMIM:186580
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe short stature, Hypospadias, Delayed cranial suture closure, Severe genera... OMIM:210730
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Limited elb... OMIM:261540
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re... ORPHA:137675
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Micromelia, Postaxial po... OMIM:617895
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallu... ORPHA:500095
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... ORPHA:79330
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Antley-Bixler Syndrome
Arachnodactyly, Recurrent fractures, Camptodactyly of finger, Craniosynostosis, Joint stiffness, ... ORPHA:83
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hepat... OMIM:263520
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Clinodactyly of the 5th finger, Hypospadias... ORPHA:2554
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Pustule, Corneal erosion, Paro... ORPHA:37
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... ORPHA:857
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Anterior pituitary hypoplasia, Polyhydramnios, Synophrys, Low anterior h... OMIM:619841
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence, Syncope, Distal sensory impairment OMIM:608088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Congenital hip dislocation, Atrial septal defect, Joint laxity, Short stature, Thorac... ORPHA:480880
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Polyhydra... OMIM:613406
Lesch-Nyhan Syndrome
Short stature, Megaloblastic anemia, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocal... OMIM:300322
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... ORPHA:672
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko... ORPHA:764
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Scalp-Ear-Nipple Syndrome
Anisocoria, Multiple lipomas, Clinodactyly of the 5th finger, Supraventricular tachycardia, Spars... OMIM:181270
Neurodegeneration With Brain Iron Accumulation 5
Akinesia OMIM:300894
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Brachydactyly, Bowing of the long bones, Multicystic... ORPHA:1318
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ... OMIM:164310
Meckel Syndrome 12
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia OMIM:616258
Zimmermann-Laband Syndrome 1
Hyperextensibility of the finger joints, Hepatomegaly, Cataract, Thick eyebrow, Thick hair, Highl... OMIM:135500
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Bicuspid pulmonary valve, Pectus carinatum, Abnormal sternum morphology, A... OMIM:610168
Cerebrofaciothoracic Dysplasia
Short stature, Polyhydramnios, Abnormal hair pattern, Short neck, Synophrys, Rib fusion, Hemivert... ORPHA:1394
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... OMIM:613471
Dubowitz Syndrome
Cryptorchidism, Inguinal hernia, Hypocholesterolemia OMIM:223370
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Inguinal hernia, Alopecia, Tapered toe, Sparse eyelashes, Polyhydramnios, Large f... ORPHA:544488
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Accelerated skeletal maturation, Myocarditis, Dela... ORPHA:93317
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Cataract, Proteinuria, Vaginal... ORPHA:1018
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss, Inflammation of the large intestine... ORPHA:26790
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Ventricular septal defect, Diastasis recti, Small for gestational age, Large for ges... ORPHA:254534
Arthrogryposis Multiplex Congenita 5
Inguinal hernia, Akinesia, Flexion contracture, Elbow flexion contracture, Camptodactyly, Umbilic... OMIM:618947
Cole-Carpenter Syndrome
Bowing of the long bones, Short stature, Recurrent fractures, Abnormal dental enamel morphology, ... ORPHA:2050
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Atrial septal defect, Sho... OMIM:250220
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ... ORPHA:353277
Tetrasomy 12P
Short stature, Cachexia, Short neck, Sparse eyebrow, Delayed skeletal maturation, Joint hyperflex... ORPHA:884
Anaplastic Thyroid Carcinoma
Weight loss, Abnormal skeletal muscle morphology, Lymphadenopathy, Neoplasm of the lung, Anaplast... ORPHA:142
Osteoglophonic Dysplasia
Osteopenia, Short neck, Hypoplastic toenails, Short metatarsal, Short palm, Short phalanx of fing... OMIM:166250
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Infantile Neuroaxonal Dystrophy
Ataxia, Unsteady gait, Flexion contracture, Gait disturbance, Abnormality of visual evoked potent... ORPHA:35069
Chime Syndrome
Osteolysis ORPHA:3474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media, Atrial septal de... ORPHA:353281
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Cataract, Congenital diaphragmatic hernia, Sclerocor... OMIM:309801
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Stiff neck, Urina... ORPHA:268882
Infantile Krabbe Disease
Cachexia, Opisthotonus, Abnormal heart rate variability, Ankle clonus, Shoulder girdle muscle wea... ORPHA:206436
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Failure to thrive, Ataxia, Aciduria, Microvesicular hepatic steatosis, Micronodular... OMIM:203700
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Penoscrotal hypospadias, Polyhydramnios, Cryptorchidism, Glandular hypospadias, Th... ORPHA:456328
Autosomal Recessive Cutis Laxa Type 1
Joint subluxation, Hernia, Multiple bladder diverticula, Vesicoureteral reflux, Intrauterine grow... ORPHA:90349
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Ring Chromosome 10 Syndrome
Sandal gap, Cachexia, Tapered finger, Pectus excavatum, Short neck, Hypocalcemia, Intrauterine gr... ORPHA:1438
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Congenital contracture, Gen... OMIM:208150
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Urinary incontinence, Unsteady gait, Limb ataxia, Gait atax... ORPHA:98760
Canavan Disease
Abnormality of visual evoked potentials, Flexion contracture ORPHA:141
Micro Syndrome
Hypoplasia of penis, Joint stiffness, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplas... ORPHA:2510
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Inte... OMIM:619656
Late-Infantile/Juvenile Krabbe Disease
Ataxia, Gait disturbance, Difficulty walking, Loss of ambulation, Abnormality of visual evoked po... ORPHA:206443
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal g... ORPHA:263508
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Urinary incontinence, Kyphosis, Sinus bradycardia, Astigmatism, Aspiration pneumonia, Scoliosis, ... OMIM:619482
Monosomy 9P
Hypospadias, Thin nail, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality... ORPHA:261112
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Large for gestational age, Coxa va... ORPHA:254519
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal mesentery m... ORPHA:2167
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scolio... OMIM:614688
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Akinesia OMIM:608013
Hereditary Central Diabetes Insipidus
Growth delay, Diabetes insipidus, Weight loss ORPHA:30925
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Sparse eyebrow, Cryptorchi... OMIM:616300
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... ORPHA:79078
Thakker-Donnai Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Rectovagin... ORPHA:1780
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalang... OMIM:225500
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Unsteady gait, Ataxia OMIM:256600
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Abnormal penis morphology, Short me... ORPHA:3404
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Narcolepsy, Jaundice, Hepatosplenomegaly, Abn... ORPHA:646
Hirschsprung Disease
Failure to thrive in infancy, Short stature, Weight loss, Neoplasm of the thyroid gland, Adducted... ORPHA:388
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Abnormal amplitude of flash visual evoked potentials, Gait disturbance... ORPHA:168491
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Renal insufficiency, Short stature, Proteinuria, Cryptorchidism, Tel... OMIM:300519
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... OMIM:602196
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Clubbing, Bronchiectasis, Weight loss,... ORPHA:79127
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Hypoplasia... OMIM:618419
Peters Plus Syndrome
Ureteral duplication, Polyhydramnios, Micromelia, Short neck, Bicuspid pulmonary valve, Microcorn... ORPHA:709
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Joint contracture, Inguinal hernia OMIM:614457
Mepan Syndrome
Abnormality of visual evoked potentials, Ataxia, Gait disturbance ORPHA:508093
Whim Syndrome
Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia, Lymphopenia, P... ORPHA:51636
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Abdomi... OMIM:619321
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Ppoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97278
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Low back pain, Splenomegaly, Acute myelomono... ORPHA:86843
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Nail dystrophy, Testicular at... OMIM:613987
Goodpasture Syndrome
Anemia, Increased blood urea nitrogen OMIM:233450
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility, Ataxia OMIM:613909
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Gait disturbance ORPHA:2971
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis, Ventricular septal defect, Pedal edema, Sinus bradycardia OMIM:126320
Osteogenesis Imperfecta, Type Xv
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... OMIM:615220
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss ORPHA:86884
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex, Short tubular bones of ... ORPHA:85184
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Fibrochondrogenesis 2
Cupped ribs, Metaphyseal widening, Bell-shaped thorax, Platyspondyly, Short ribs, Metaphyseal cup... OMIM:614524
Restrictive Dermopathy
Osteopenia, Ureteral duplication, Multiple joint contractures, Polyhydramnios, Atrial septal defe... ORPHA:1662
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... OMIM:218600
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B vi... ORPHA:90003
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Vascular Ehlers-Danlos Syndrome
Inguinal hernia, Hypospadias, Cryptorchidism, Osteoarthritis, Cigarette-paper scars, Cystocele, O... ORPHA:286
Nijmegen Breakage Syndrome
Abnormal hair quantity, Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, S... ORPHA:647
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Anteriorly displaced ... OMIM:276820
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thick eyebrow, Symblepharon, Short neck, Thickened cortex of long bones, Delayed skel... ORPHA:488434
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem... OMIM:620040
Sclerosteosis 1
Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Irregular m... OMIM:269500
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital hip dislocation, Small scrotum, Congenital diaphragmatic ... OMIM:601803
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... OMIM:258360
Kyphomelic Dysplasia
Micromelia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short metacarpal, Ra... OMIM:211350
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Hemivertebrae, Simplified gyral pattern, Atrial septal defect, Emphysem... ORPHA:500150
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pneumothorax, Bronchiectasis, Lymphadenopathy, Weight loss, Pleural effusion ORPHA:411703
X-Linked Creatine Transporter Deficiency
Short stature, Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Joint hyper... ORPHA:52503
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Inability to walk, Shuffling gait ORPHA:52368
White-Sutton Syndrome
Waddling gait, Joint laxity, Congenital diaphragmatic hernia, Hypoglycemic seizures, Abnormality ... OMIM:616364
Elsahy-Waters Syndrome
Bifid scrotum, Thick eyebrow, Cataract, Hypospadias, Pectus excavatum, Bilateral cryptorchidism, ... OMIM:211380
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph... OMIM:266600
Eiken Syndrome
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... OMIM:600002
Hereditary Late-Onset Parkinson Disease
Resting tremor, Akinesia, Spastic/hyperactive bladder, Weight loss, Shuffling gait, Dystonia, Ort... ORPHA:411602
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Ventricular septal defec... OMIM:117650
Craniometadiaphyseal Dysplasia
Osteopenia, Short stature, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Sclerosis ... OMIM:269300
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Polyhydramnios, Edema, Short tubular b... OMIM:200610
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Short neck, Knee flexion contracture, Atrial septal defect, Sparse hair, Wrist fl... OMIM:268300
Young-Onset Parkinson Disease
Tremor, Male sexual dysfunction, Gait imbalance, Dystonia, Female sexual dysfunction ORPHA:2828
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Isotretinoin-Like Syndrome
Lymphopenia, Hypocalcemia ORPHA:2306
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Intrauterine growth retardation, Abnormal rib morphology ORPHA:1506
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Erythroderma, Weight loss ORPHA:312
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Ataxia, Adrenocorticotropin receptor defect, Adrenal insuff... OMIM:231550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs,... ORPHA:163966
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... ORPHA:1332
Neu-Laxova Syndrome 1
Polyhydramnios, Micromelia, Short neck, Calcaneovalgus deformity, Pterygium, Patent foramen ovale... OMIM:256520
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Weight loss OMIM:191390
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Abnormal s... ORPHA:3109
Radio-Renal Syndrome
Multicystic kidney dysplasia, Severe short stature, Micromelia, Short neck, Abnormality of the el... ORPHA:3015
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria, Abnormal h... ORPHA:268943
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Enthesitis, Abnormal shoulder morphology, Iritis, Abnormality of the wrist, Abnormality ... ORPHA:85436
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Steppage gait OMIM:601152
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Hepa... ORPHA:1333
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Finger syndactyly, Short stature, Cachexia, Pectus excavatum, Abnormalit... ORPHA:1969
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Short stature, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibilit... ORPHA:2058
Cap Polyposis
Hematochezia, Atrophic gastritis, Weight loss ORPHA:160148
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia ORPHA:168816
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Cystic Fibrosis
Osteopenia, Recurrent respiratory infections, Absent vas deferens, Sinusitis, Pneumothorax, Osteo... ORPHA:586
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Bullous Pemphigoid
Diabetes mellitus, Eczema, Psoriasiform dermatitis, Weight loss ORPHA:703
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Laryngotracheomalacia, Dystonic gait ORPHA:480898
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Limb dystonia, Lingual dystonia, L... ORPHA:93958
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Septate vagina, Lateral clavicle hook, Complete atriov... OMIM:617925
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Laryngotracheomalacia OMIM:616875
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Hydrops fetalis, Renal cyst, Narrow chest, Absent or minimally o... ORPHA:93271
Pauci-Immune Glomerulonephritis
Renal insufficiency, Purpura, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated ci... ORPHA:93126
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials OMIM:617523
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Xerostomia, Keratoconjunctivitis sicca, Impotence, Orthostatic hypoten... ORPHA:43393
Seckel Syndrome
Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, Sho... ORPHA:808
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Abnormal lung lobati... ORPHA:3384
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... OMIM:610682
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Short stature, Polyhydramnios, Postaxial polydactyly, Splenomegaly, Postaxial hand ... OMIM:617088
Malignant Peritoneal Mesothelioma
Peritonitis, Ascites, Pedal edema, Weight loss ORPHA:168811
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Hypoesthesia, Ragged-red muscle fibers... OMIM:603041
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exs... ORPHA:322
Thoracic Outlet Syndrome
Abnormal rib morphology, Paresthesia, Edema ORPHA:97330
Vater/Vacterl Association
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, Patent ur... OMIM:192350
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Increased connective tissue, Inability to walk, Flexion contracture, Highly elevated creatine kin... ORPHA:258
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Gait disturbance OMIM:125310
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Progressive gait ataxia, Tip-toe gait, Gait ataxia ORPHA:309256
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Clubbing, Intraalveol... ORPHA:747
Gerstmann-Straussler Disease
Tremor, Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia, Lower limb muscle weakness OMIM:137440
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria OMIM:620185
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Block vertebrae, Ventricular septal defect, Hypoplasia of facial mu... OMIM:164210
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Limited elbow movement, Sagittal craniosyno... ORPHA:221120
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Ventricular septal defect, Short stature, Increased inte... OMIM:619727
Malt Lymphoma
Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ... ORPHA:52417
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Retinoblastoma
Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Pineoblastoma, L... ORPHA:790
Fatal Familial Insomnia
Urinary retention, Ataxia, Weight loss OMIM:600072
Supranuclear Palsy, Progressive, 2
Falls, Gait imbalance, Akinesia OMIM:609454
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Accelerated skeletal maturation, Thyrotoxicosis with ... ORPHA:424
Neurodegeneration With Brain Iron Accumulation 1
Choreoathetosis, Akinesia, Ataxia, Gait disturbance OMIM:234200
Supranuclear Palsy, Progressive, 1
Falls, Gait imbalance, Akinesia OMIM:601104
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Progressive gait ataxia ORPHA:309263
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Micromelia, Sh... ORPHA:3003
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Progressive gait ataxia, Difficulty walking ORPHA:309271
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l... ORPHA:100086
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Paraganglioma, Weight loss ORPHA:97286
Pudendal Neuralgia
Back pain, Dyspareunia, Somatic sensory dysfunction, Dysuria, Pollakisuria, Scrotal pain, Impoten... ORPHA:60039
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials ORPHA:485421
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Tip-toe gait, Ataxia, Gait disturbance ORPHA:512
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Acquired Central Diabetes Insipidus
Pollakisuria, Diabetes insipidus, Weight loss ORPHA:95626
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Short stature, Skin rash, Cachexia ORPHA:220295
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,... ORPHA:677
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Brachydactyly, Cachexia, Short palm ORPHA:3217

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 Bmal1

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 Bmal1.

No publications found that use IMPC mice or data for Bmal1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bmal1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bmal1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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