Gene Summary

thrombospondin 1
Thbs-1,  TSP-1,  TSP1,  tbsp1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Thbs1tm1.1(KOMP)Vlcg HOM Early adult 1.69×10-19
increased bone mineral content Thbs1tm1.1(KOMP)Vlcg HOM Early adult 1.73×10-05
increased circulating aspartate transaminase level Thbs1tm1.1(KOMP)Vlcg HOM Early adult 4.25×10-05
abnormal lung morphology Thbs1tm1.1(KOMP)Vlcg HOM Early adult 0.00
enlarged heart Thbs1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal liver morphology Thbs1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Thbs1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (1 of 1)
Aorta  Section images heterozygote 100% (1 of 1)
Blood  Section images heterozygote 100% (1 of 1)
Bone marrow  Section images heterozygote 100% (1 of 1)
Cecum  Section images heterozygote 100% (1 of 1)
Cerebellum  Section images heterozygote 100% (1 of 1)
Colon  Section images heterozygote 100% (1 of 1)
Diaphragm  Section images heterozygote 100% (1 of 1)
Duodenum  Section images heterozygote 100% (1 of 1)
Esophagus  Section images heterozygote 100% (1 of 1)
Eye  Section images heterozygote 100% (1 of 1)
Gonadal fat pad  Section images heterozygote 100% (1 of 1)
Harderian gland  Section images heterozygote 100% (1 of 1)
Ileum  Section images heterozygote 100% (1 of 1)
Kidney  Section images heterozygote 100% (1 of 1)
Liver  Section images heterozygote 100% (1 of 1)
Lung  Section images heterozygote 100% (1 of 1)
Mammary gland  Section images heterozygote 100% (1 of 1)
Mesenteric adipose tissue  Section images heterozygote 0.0% (0 of 1)
Mesenteric lymph node  Section images heterozygote 100% (1 of 1)
Midbrain  Section images heterozygote 100% (1 of 1)
Ovary  Section images heterozygote 100% (1 of 1)
Oviduct  Section images heterozygote 100% (1 of 1)
Pancreas  Section images heterozygote 100% (1 of 1)
Parathyroid gland  Section images heterozygote 100% (1 of 1)
Parotid gland  Section images heterozygote 100% (1 of 1)
Quadriceps  Section images heterozygote 100% (1 of 1)
Sciatic nerve  Section images heterozygote 100% (1 of 1)
Skin  Section images heterozygote 100% (1 of 1)
Spinal cord  Section images heterozygote 100% (1 of 1)
Spleen  Section images heterozygote 100% (1 of 1)
Stomach  Section images heterozygote 100% (1 of 1)
Sublingual gland  Section images heterozygote 100% (1 of 1)
Submandibular gland  Section images heterozygote 100% (1 of 1)
Thymus  Section images heterozygote 100% (1 of 1)
Thyroid gland  Section images heterozygote 100% (1 of 1)
Tongue  Section images heterozygote 100% (1 of 1)
Urinary bladder  Section images heterozygote 100% (1 of 1)
Uterus  Section images heterozygote 100% (1 of 1)
Vagina  Section images heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote 100% (1 of 1)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (1 of 1)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Trachea N/A heterozygote 0.0% (0 of 1)
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

100 Images


XRay Images Forepaw

10 Images


XRay Images Hind Leg and Hip

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Thbs1 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 Thbs1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Macroglossia, Recurrent respiratory infections, Scoliosis, Thoracolumbar scoliosis, Eosinophilia,... OMIM:618523
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepato... OMIM:614470
Pleuritis, Chronic pulmonary obstruction, Intracranial hemorrhage, Dyspnea, Abnormality of the ve... ORPHA:1163
Cystic Echinococcosis
Abnormality of the diaphragm, Biliary tract obstruction, Hepatomegaly, Abnormal heart morphology,... ORPHA:400
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy OMIM:604765
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Acute hepatic failure, Maculopapular exanthema, Pleural effusion, Hemophagocy... OMIM:619644
Eosinophilia, Familial
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia, Recur... OMIM:131400
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, High palate, Atopic dermatitis, Pulmonic stenosis, Atrial septa... OMIM:618282
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Inflammation of the large intestine, Colitis, Recurrent pneumonia, B lymphocytopeni... OMIM:619281
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Eosinophilia, Restrictive cardiomyopathy, Endocardial ... OMIM:607685
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, S... OMIM:226990
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Scoliosis, Myopathy, Respiratory insufficiency, Hamstr... ORPHA:97244
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Irregular vertebral endplates, Hepatomeg... OMIM:616651
Cardiomegaly OMIM:227150
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Chronic cough, Recurrent o... OMIM:617585
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Ulcerative colitis, Eosinophilia, Bronchiectasis, Pneumonia, Colonic eosinophi... OMIM:617638
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Scoliosis, High palate, Skin rash, Eos... OMIM:147060
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Lymphopenia, Arthritis, Eosinophilia ORPHA:2582
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Aplastic anemia, Recurrent aphthous stomatitis, Leukemia, Acu... ORPHA:486
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Abnormal lymphocyte ... OMIM:613953
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, T lymphocytopenia, Recurrent otitis media, Pneumonia, Ecze... OMIM:608971
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Lym... OMIM:619802
Roifman Syndrome
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Recurrent otitis media, Recurrent... ORPHA:353298
Alveolar Echinococcosis
Abnormality of the diaphragm, Abnormal spleen morphology, Abnormality of mesentery morphology, Pu... ORPHA:284
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Atopic dermatitis, Eczema, Cerebral ... OMIM:243700
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Malabsorption, Transient ischemic attack, Hypertrophic cardiomyopathy, Abnormal peri... ORPHA:183
Caroli Syndrome
Polycystic kidney dysplasia, Leukocytosis, Hepatomegaly, Abnormal bleeding, Liver abscess, Leukop... ORPHA:480520
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability OMIM:614896
Loeffler Endocarditis
Dyspnea, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, ... ORPHA:75566
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... ORPHA:97292
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Intermittent thrombocytopenia, Recurrent lower respiratory tract i... OMIM:612541
Ring Dermoid Of Cornea
Abnormal corneal limbus morphology, Abnormal conjunctiva morphology, Corneal astigmatism, Abnorma... OMIM:180550
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Stomatitis, Skin rash, Recurrent bacterial skin infections, Autoimmune thromb... ORPHA:911
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Abnormality of the gastrointestinal tract, Dyspnea, Atopic dermatitis, Leukocy... ORPHA:2902
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced left ventricular ejection fraction, Endocarditis, Left ventricular hyper... ORPHA:3093
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphopenia, Chronic oral candi... ORPHA:169160
Congenital Alveolar Capillary Dysplasia
Hypoplastic left heart, Asplenia, Ventricular septal defect, Tetralogy of Fallot, Atrial septal d... ORPHA:210122
Legionnaires Disease
Myocarditis, Proteinuria, Endocarditis, Hypotension, Restrictive ventilatory defect, Lymphopenia,... ORPHA:549
Juvenile Temporal Arteritis
Vasculitis, Leukocytosis, Eosinophilia, Allergic rhinitis, Cerebral ischemia, Conjunctivitis ORPHA:26137
Pancreatic hypoplasia, Situs inversus totalis, Abnormal EKG, Dextrocardia, Abnormality of the ure... ORPHA:1666
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Scoliosis, Short neck, Respiratory insuf... OMIM:300718
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Acute hepatic failure, Cardiac arrest, Dyspnea, Tubulointerstitial nephritis, Skin r... ORPHA:139402
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Flexion contra... OMIM:618815
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Hypotension, Cough, Pancreatitis, Renal insufficiency, Arrhythmia, Car... ORPHA:188
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Abnormal bleeding ORPHA:517
Bronchogenic Cyst
Abnormality of the peritoneum, Dyspnea, Abnormality of the diaphragm, Atelectasis, Cough, Abnorma... ORPHA:2357
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst, Abscess, Anal fissure, Granuloma,... OMIM:618935
Myocarditis, Episcleritis, Transient ischemic attack, Abnormal stomach morphology, Intestinal ble... ORPHA:801
Chronic otitis media, Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T... ORPHA:443811
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Renal insufficiency, Cardiomyopathy, Hepatomegaly, Respiratory distress, Th... ORPHA:79312
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Chronic hepatitis, Malabsorption, Intracrania... ORPHA:3260
Omenn Syndrome
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Nephrotic syndrome, Splenomeg... ORPHA:39041
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... OMIM:202700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Hypoalbuminemia ORPHA:88643
Mitochondrial Complex I Deficiency, Nuclear Type 8
Respiratory insufficiency, Pancreatitis, Kyphoscoliosis, Dysphagia OMIM:618230
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Orbital cyst, Microphthalmia OMIM:251505
Nemaline Myopathy 2
Scoliosis, Respiratory insufficiency due to muscle weakness, Type 1 muscle fiber predominance, Sp... OMIM:256030
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Pulmonary arterial hypertension, Proteinuria, Abnormal intestine morph... ORPHA:1830
Immunodeficiency 23
Recurrent respiratory infections, High palate, Scoliosis, Hemolytic anemia, Abscess, Neutropenia,... OMIM:615816
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Shwachman-Diamond Syndrome
Hypopituitarism, Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Acute myeloid leukem... ORPHA:811
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Epicanthus, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616276
Cystic Fibrosis
Chronic sinusitis, Meconium ileus, Hepatomegaly, Reduced forced vital capacity, Male infertility,... OMIM:219700
Stevens-Johnson Syndrome
Abnormal myocardium morphology, Myocardial infarction, Acute hepatic failure, Recurrent respirato... ORPHA:36426
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Refractory anemia, Monocytosis, Eczema, Asthma, Acute my... OMIM:616871
Immunodeficiency 7
Recurrent respiratory infections, Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, C... OMIM:615387
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Eosin... OMIM:618999
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Pancreatitis, Renal insufficiency, Hepatomegaly, Renal tubular dysfunction, Respiratory d... ORPHA:289916
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Neuronopathy, Distal Hereditary Motor, Type Viii
Distal lower limb amyotrophy, Nonprogressive muscular atrophy, Scoliosis, Spinal muscular atrophy... OMIM:600175
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Atopic dermatitis, Leukocytosis, Hematochezia, Anemia,... ORPHA:2070
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Ma... OMIM:603909
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Anemia, Respiratory insufficiency, Pancreatitis, Renal insufficiency, Cardiomyopathy,... ORPHA:27
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Neck joint contracture, Thoracolumbar scoliosis, Skeletal muscle atrophy, S... OMIM:255600
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Myopathy, Distal, 1
High palate, Tibialis anterior muscle atrophy, Scoliosis, Lumbar hyperlordosis, Left atrial enlar... OMIM:160500
Propionic Acidemia
Increased level of hippuric acid in urine, Limb hypertonia, Anemia, Pancreatitis, Cardiomyopathy,... OMIM:606054
Igg4-Related Pachymeningitis
Dyspnea, Low back pain, Lower limb muscle weakness, Pancreatitis, Lymphadenitis, Parotitis, Eosin... ORPHA:449427
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Recurrent respiratory infections, Leukopenia, Chronic pulmonary obstruction, ... OMIM:618986
Beta-Thalassemia Intermedia
Leukocytosis, Hypoparathyroidism, Hepatomegaly, Proximal tubulopathy, Decreased liver function, H... ORPHA:231222
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Lumbar hyperlordosis, Atlantoaxial instability, Respir... OMIM:600561
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy, Restrictive cardiomyopathy, Dilated cardiomyopathy, H... OMIM:601419
Congenital Myopathy 2A, Typical, Autosomal Dominant
High palate, Scoliosis, Respiratory insufficiency, Respiratory insufficiency due to muscle weakne... OMIM:161800
Toxic Epidermal Necrolysis
Malabsorption, Abnormal myocardium morphology, Intestinal perforation, Acute hepatic failure, Rec... ORPHA:537
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Arrhythmia, Cardiomyopathy, EMG: myopathic abnormalities, Ragged-red muscle fibers, Bra... OMIM:609286
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Pancreatitis, Renal insufficiency,... OMIM:619386
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Absence of CD8-positive T cells, Hepatom... OMIM:269840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Muscle fiber splitting, Restrictive ventilatory defect, Type 1 muscle fiber predominan... OMIM:253700
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Scoliosis, Spinal muscular atroph... OMIM:615290
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Lymphopenia, Monocytopenia, Abnorma... ORPHA:2688
Nemaline Myopathy 7
High palate, Minicore myopathy, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Respirator... OMIM:610687
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Diffuse mesangial sclerosis, Skin rash, Reduced red cell ad... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Colitis, Hepatomegaly, Gastritis, Neoplasm of the tongue, Abnormal bleeding, Decreased proportion... ORPHA:3261
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Va... OMIM:601859
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Leukopenia, Pancreatitis, Cardiomyo... OMIM:251000
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Atri... OMIM:208540
Anemia, Respiratory insufficiency, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatiti... ORPHA:848
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Intestinal malrotation, Congenital pulmonary airway malformation, Hashi... ORPHA:436252
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Microcyt... OMIM:618805
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle... OMIM:614302
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal muscular atrophy, Distal lower limb muscle weakness, Distal amyotrophy, Reduced vital capa... OMIM:607088
Netherton Syndrome
Recurrent respiratory infections, Hypereosinophilia, Villous atrophy, Chronic rhinitis, Recurrent... OMIM:256500
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Cervical instability, Thoracolumbar kyphosis, Lymphopenia, Eosinophilia, Platyspond... OMIM:617425
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Epicanthus, Upslanted palpebral fissure, Microphthalmia, Microcornea ORPHA:2528
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Ileus, Anemia, Autoimmune thrombocytopenia, Neutropenia, Villous atrophy, Art... OMIM:304790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Scapula... OMIM:253600
Granulomatosis With Polyangiitis
Chronic otitis media, Pleuritis, Chronic pulmonary obstruction, Angina pectoris, Epistaxis, Recur... ORPHA:900
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lumbar hyperlordosis, Respiratory insufficiency, Type 1 muscle fiber predominance, Dis... OMIM:619042
Mucolipidosis Type Iii
Abnormal heart valve morphology, Cleft palate, Acne, Abnormal aortic valve morphology, Hyperlordo... ORPHA:577
Pparg-Related Familial Partial Lipodystrophy
Oligomenorrhea, Dysmenorrhea, Primary amenorrhea, Myopathy, Pancreatitis, Polycystic ovaries, Hyp... ORPHA:79083
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Recurrent respiratory infections, Neonatal respiratory distress, Dextroca... OMIM:615482
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Cough, Abnormal pleura morphology, Respiratory insufficiency, Abn... ORPHA:724
Cln3 Disease
Vacuolated lymphocytes, Cataract, Left ventricular hypertrophy, Acne, Bradycardia, T-wave inversion ORPHA:228346
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Elev... OMIM:613490
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis OMIM:615592
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia OMIM:611938
Cach Syndrome
Hepatosplenomegaly, Premature ovarian insufficiency, Optic neuritis, Arthrogryposis multiplex con... ORPHA:135
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Abnormal macrophage morphology, Scoliosis, Lumbar hyperlordosis, Left ventricular s... ORPHA:353
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hyperammonemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kinase... OMIM:600649
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Kyphosis, Congestive heart failure, Splenomegaly ORPHA:796
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Skin rash, Decreased proportion of CD3-positive T cell... ORPHA:331206
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Lymphopenia, Eosinophilia, B lymphocytopenia, Pneumonia, Rec... OMIM:602450
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Elevated hepatic tra... ORPHA:65682
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Anemia, Uveitis, Arthritis, Eosinophilia OMIM:607115
Cyclic Neutropenia
Peritonitis, Lymphopenia, Respiratory tract infection, Decreased eosinophil count, Tooth abscess,... ORPHA:2686
Long Qt Syndrome 15
Cardiac arrest, Prolonged QTc interval, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Myasthenic Syndrome, Congenital, 5
Scoliosis, Myopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... OMIM:603034
Martinez-Frias Syndrome
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Intestinal hypoplasia, Duodenal atresia... OMIM:601346
Exercise-Induced Malignant Hyperthermia
Rhabdomyolysis, Abnormal T-wave, Hypotension, Sinus tachycardia, Abnormal pulse pressure, ST segm... ORPHA:466650
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Proximal amyotrophy, Respiratory insufficiency, Kyphosis, Spinal rigidity, Hyperlordosis OMIM:617404
Peritonitis, Granuloma, Vasospasm, Abnormality of the spleen, Erythema nodosum, Vasculitis, Abnor... ORPHA:228123
Vernal Keratoconjunctivitis
Punctate keratitis, Abnormal conjunctiva morphology, Pruritus, Abnormal cornea morphology, Cornea... ORPHA:70476
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Spinal muscular atrophy, Distal amyotrophy, Respiratory insufficiency due to muscle we... OMIM:611067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Scoliosis, Proximal amyotrophy, Shoulder girdle muscle weakness, Vertebral fusion, ... OMIM:606612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Cryptorchidism, Scoliosis, Micropenis, Left ventricular systolic dysfunction, Left ... OMIM:613156
Autosomal Dominant Hyper-Ige Syndrome
Chronic otitis media, Recurrent respiratory infections, Scoliosis, Atelectasis, Skin rash, Cough,... ORPHA:2314
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Primary Sclerosing Cholangitis
Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Spider hemangioma, C... ORPHA:171
Idiopathic Congenital Hypothyroidism
Macroglossia, Decreased circulating T4 concentration, Increased radioactive iodine uptake, Bradyc... ORPHA:95717
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Facial telangiectasia, ... OMIM:602782
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Ovoid vertebral bodies, Vertebral wedging, Kyphosis, Beaking of vertebral bodies, Hype... ORPHA:40
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Liver abscess, Intrahepatic cholestasis, Neoplasm of the l... ORPHA:69663
Peritonitis, Myocarditis, Urethritis, Bronchiolitis, Abnormality of the spleen, Decreased proport... ORPHA:2552
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Anemia, Abnormal mitral valve morphology, Nephropathy, Hypertension,... ORPHA:1192
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, C... OMIM:612444
Peritonitis, Myocarditis, Atelectasis, Colitis, Gastritis, Pneumothorax, Splenic abscess, Epistax... ORPHA:73263
Isolated Glycerol Kinase Deficiency
Scoliosis, Cryptorchidism, Hyperlordosis, Myopathy ORPHA:408
Familial Partial Lipodystrophy, Dunnigan Type
Dysmenorrhea, Myopathy, Pancreatitis, Polycystic ovaries, Skeletal muscle hypertrophy, Hepatomega... ORPHA:2348
Spastic Paraplegia 18, Autosomal Recessive
High palate, Scoliosis, Lower limb muscle weakness, Skeletal muscle atrophy, Kyphosis, Joint cont... OMIM:611225
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Hydronephrosis, Superficial dermal perivascular inflammatory infiltrate, C... ORPHA:83617
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Multiple Acyl-Coa Dehydrogenase Deficiency
Polycystic kidney dysplasia, Cardiomyopathy, Hepatomegaly, Abnormal heart morphology, Acute pancr... ORPHA:26791
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Lumbar hyperlordosis, Congenital foot contractures, Paraspinal muscle hypertrophy, Kne... OMIM:602484
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Splenomegaly, Eosinophi... OMIM:603554
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Anemia, Abnor... ORPHA:229717
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Recurrent respiratory infections, Neonatal respiratory distress, Chronic ... OMIM:613807
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Eosinophilia, Recurrent pneumonia, Melena, Cor pu... OMIM:158310
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Distal lower limb muscle weakness, Horseshoe kidney, Hepatomegaly, Decreased proportion of CD4-po... ORPHA:508533
Chronic Atrial And Intestinal Dysrhythmia
Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial... OMIM:616201
Chylous Ascites
Pancreatitis, Abnormal intestine morphology ORPHA:1160
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Shoulder girdle muscle weakness, Hand muscle weakness, Abnormality ... ORPHA:363454
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... OMIM:603903
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Pancreatitis, Hypertension, Hepatomegaly, Hepatic steatosis ORPHA:79084
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Cholestasis, Malabsorption, Jeju... OMIM:615710
Adult Acute Respiratory Distress Syndrome
Vasculitis, Dyspnea, Hypotension, Pancreatitis, Hypoxemia, Abnormal blood gas level, Pulmonary ed... ORPHA:70578
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Acute Lung Injury
Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Acute pancreati... ORPHA:178320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Cardiomyopathy, Microphthalmia, Facial... OMIM:613155
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chr... ORPHA:98849
Congenital Myopathy 16
High palate, Scoliosis, Lumbar hyperlordosis, EMG: myopathic abnormalities, Scapular winging, Spi... OMIM:618524
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia,... ORPHA:277
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Asthma, Eosinophilia OMIM:618092
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Patent ductus art... OMIM:618782
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Lumbar hyperlordosis, Thoracic kyphosis, Left ventricular hypertrophy, Abnormality of the shoulde... ORPHA:206546
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... ORPHA:232
Primary Lipodystrophy
Myopathy, Polycystic ovaries, Pancreatitis, Cardiomyopathy, Skeletal muscle hypertrophy, Hyperten... ORPHA:90970
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, ... OMIM:312863
Crimean-Congo Hemorrhagic Fever
Myocarditis, Gingival bleeding, Leukocytosis, Hepatomegaly, Acute pancreatitis, Bundle branch blo... ORPHA:99827
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Ast... ORPHA:1164
Caroli Disease
Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho... ORPHA:53035
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Lumbar hyperlordosis, Limb-girdle muscular dystrophy, Ca... ORPHA:280333
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrh... OMIM:211600
Igg4-Related Kidney Disease
Pleuritis, Chronic sinusitis, Inflammatory abnormality of the skin, Enlarged kidney, Urethritis, ... ORPHA:449395
Hereditary Folate Malabsorption
Recurrent respiratory infections, Glossitis, Gastroesophageal reflux, Megaloblastic anemia, Cheil... ORPHA:90045
Hereditary Hemorrhagic Telangiectasia
Transient ischemic attack, Cholelithiasis, Epistaxis, Conjunctival telangiectasia, Subarachnoid h... ORPHA:774
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Cholestasis, Thoracolumbar scolio... OMIM:610199
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou... ORPHA:562639
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Epicanthus, Aplasia/Hypoplasia of the optic nerve, Bradycardia, Third d... ORPHA:40366
Familial Mediterranean Fever
Peritonitis, Pleuritis, Nephrocalcinosis, Erysipelas, Malabsorption, Osteoarthritis, Myocardial i... ORPHA:342
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Lower limb muscle weakness, Pelvic girdle amyotrophy, Hamstring contractures, Muscular dystrophy,... ORPHA:267
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Premature ovarian insufficiency, Nephrocalcinosis, Chronic active hepatitis... OMIM:240300
Gallbladder Disease 1
Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Elev... OMIM:600803
Dna2-Related Mitochondrial Dna Deletion Syndrome
Myopathy, Multiple joint contractures, Obstructive sleep apnea, Limb-girdle muscle weakness, Hype... ORPHA:352470
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Scoliosis, Lumbar hyperlordosis, Left ventricular hypertrophy, Cough, Type 1 muscle fibe... ORPHA:86812
Eosinophilic Fasciitis
Muscular edema, Arthritis, Fasciitis, Eosinophilia, Myositis, Abnormal eosinophil morphology ORPHA:3165
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Decreased proportion of ... OMIM:617237
Mccune-Albright Syndrome
Scoliosis, Renal phosphate wasting, Cholestasis, Increased circulating cortisol level, Renal tubu... ORPHA:562
Pauci-Immune Glomerulonephritis
Decreased glomerular filtration rate, Proteinuria, Dyspnea, Granulomatosis, Glomerular sclerosis,... ORPHA:93126
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Pneumonia OMIM:247800
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Calf muscle hypertrophy, Arrhythmia, Severely reduced left ventricul... OMIM:611705
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Erythroderma, T lymphocytopenia OMIM:610163
Atelosteogenesis, Type Ii
Scoliosis, Lumbar hyperlordosis, Short neck, Respiratory insufficiency, Coronal cleft vertebrae, ... OMIM:256050
Pancreatic Colipase Deficiency
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... ORPHA:309108
Heme Oxygenase 1 Deficiency
Chemosis, Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Increased circulating interleu... OMIM:614034
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Shoulder girdle muscle weakness, Weakness of facial musculature, Scapular w... OMIM:619477
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Patent foramen ovale, Conge... ORPHA:2255
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Scoliosis, Pancreatitis, Homocystinuria, Hepatic steatosis, Myocardial infarction, M... OMIM:236200
Mirizzi Syndrome
Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Elevated ... ORPHA:521219
Idiopathic Achalasia
Bronchitis, Gastroesophageal reflux, Cough, Dysphagia, Recurrent aspiration pneumonia, Wheezing ORPHA:930
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Matthew-Wood Syndrome
Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Pulmonary hypoplasia, Congenital di... ORPHA:2470
Glycogen Storage Disease Vii
Jaundice, Reticulocytosis, Gout, Hemolytic anemia, Exercise-induced myoglobinuria, Reduced erythr... OMIM:232800
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Recurrent upper respiratory tract infections OMIM:620137
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia, Low back pain, Intestinal obstruction, Asthma, Increased infla... ORPHA:449400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Scoliosis, Vertebral fusion, Shoulder girdle muscle weakness, Exercise-induced myog... OMIM:607155
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Mucopolysaccharidosis, Type Iva
Scoliosis, Short neck, Restrictive ventilatory defect, Cervical subluxation, Ovoid vertebral bodi... OMIM:253000
Peripheral Primitive Neuroectodermal Tumor
Abnormal thoracic spine morphology, Jaundice, Torticollis, Anemia, Lower limb muscle weakness, Pa... ORPHA:370348
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Cleft palate, Respiratory distress, Upper airway obstruction, Micr... ORPHA:141152
Behçet Disease
Pleuritis, Malabsorption, Keratoconjunctivitis sicca, Abnormal myocardium morphology, Myocardial ... ORPHA:117
Hemochromatosis, Type 1
Hepatocellular carcinoma, Osteoporosis, Cardiomyopathy, Hepatomegaly, Elevated hepatic transamina... OMIM:235200
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Perimembranous ventricular ... OMIM:600001
Microscopic Polyangiitis
Peritonitis, Vasculitis, Skin rash, Pancreatitis, Uveitis, Renal insufficiency, Gastrointestinal ... ORPHA:727
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent bacterial sk... ORPHA:217390
Pentalogy Of Cantrell
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pulmonary hypopl... ORPHA:1335
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure, Left ventricular hypertrophy OMIM:619048
Jaundice, Hemolytic anemia, Anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Igg4-Related Ophthalmic Disease
Cholangitis, Orchitis, Abnormality of the anterior pituitary, Colon cancer, Pancreatitis, Neoplas... ORPHA:449563
King-Denborough Syndrome
High palate, Cryptorchidism, Minicore myopathy, Scoliosis, Lumbar hyperlordosis, Ventricular sept... OMIM:619542
Anemia, Hypertension, Recurrent pneumonia, Tachycardia, Splenomegaly, Neutropenia OMIM:602079
Liver Disease, Severe Congenital
Peritonitis, Status asthmaticus, Ventricular septal defect, Atrial septal defect, Hepatomegaly, S... OMIM:619991
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Pulmonary hypoplasia, Abnormal biliary tract morphology, Ab... ORPHA:3032
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Eosinophilia OMIM:610247
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Chronic pulmonary obstruction, Distal lower limb muscle weakness, Hand muscle weakness, Increased... ORPHA:437572
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Gingival bleeding, Recurrent lower re... OMIM:301000
Triosephosphate Isomerase Deficiency
Jaundice, Normocytic anemia, Hemolytic anemia, Myopathy, Respiratory insufficiency, Respiratory i... OMIM:615512
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Nephrocalcinosis, Enlarged kidney, Pulmonary venous hypert... ORPHA:79259
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pleuritis, Leukocytosis, Hemolytic anemia, Intestinal perforation, Dyspnea, Hyperten... ORPHA:544482
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Hepatomegaly, E... OMIM:619652
Lipodystrophy, Congenital Generalized, Type 4
Scoliosis, Ileus, Pyloric stenosis, Tachycardia, Muscular dystrophy, Atrial fibrillation, Skeleta... OMIM:613327
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Muscle fiber splitting, Calf muscle hypertrophy, Type 1 muscle fiber predominance, Ske... OMIM:617760
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pneumonia ORPHA:464370
Maculopapular exanthema, Nephrocalcinosis, Hemolytic anemia, Keratoconjunctivitis sicca, Hepatome... ORPHA:797
Hardikar Syndrome
Ventricular septal defect, Cholestasis, Hydroureter, Atrial septal defect, Hepatomegaly, Prolonge... OMIM:301068
Ebola Hemorrhagic Fever
Dyspnea, Maculopapular exanthema, Leukopenia, Cough, Lymphopenia, Hepatitis, Acute pancreatitis, ... ORPHA:319218
Cataract 9, Multiple Types
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Keratoconus, Bradycardia, Ventricular esc... ORPHA:542306
Immunodeficiency 27A
Hepatosplenomegaly, Abnormal bronchus physiology, Leukocytosis, Anemia, Histiocytosis, Pneumonia,... OMIM:209950
Primary Ciliary Dyskinesia
Situs inversus totalis, Chronic otitis media, Recurrent sinopulmonary infections, Chronic sinusit... ORPHA:244
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Kyphosis, Abno... ORPHA:1354
Myasthenic Syndrome, Congenital, 14
High palate, Scoliosis, Type 1 muscle fiber predominance, Weakness of facial musculature, Knee fl... OMIM:616228
Aicardi-Goutieres Syndrome 9
Scoliosis, Hemolytic anemia, Hepatomegaly, Chilblains, Acute pancreatitis, Lower limb hypertonia,... OMIM:619487
2Q24 Microdeletion Syndrome
Cataract, Camptodactyly of finger, Downslanted palpebral fissures, Microphthalmia, Abnormality ir... ORPHA:1617
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormality of the calf musculature, Vacuolated lymphocytes, Dyspnea, Inflammatory abnormality of... ORPHA:565612
Myotonic Dystrophy 1
Testicular atrophy, Hypogonadism, Facial diplegia, First degree atrioventricular block, Respirato... OMIM:160900
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, ... OMIM:300400
Congenital Myopathy 4A, Autosomal Dominant
High palate, Scoliosis, Lumbar hyperlordosis, Respiratory insufficiency, Respiratory insufficienc... OMIM:255310
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Abnormal intestine morp... OMIM:615952
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cirrhosis, Decreased liver function, Cholelithiasis, Eczema ORPHA:79278
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Nasal polyposis, Anemia, Abnor... ORPHA:2869
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Hepatosplenomegaly, Prolonged prothrombin time, Hepatomegaly, Elevated hepatic transaminase, High... ORPHA:3166
Leukocytosis, Increased circulating antibody level, Anemia, Skin rash, Conjunctivitis, Conjunctiv... ORPHA:3392
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Joint contracture of the 5th finger, Long eyebrows OMIM:614407
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Chronic lu... OMIM:617514
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ... OMIM:619170
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Dyspnea, Shoulder girdle muscle weakness, Myopathy, Obstructive sleep apnea, Pelvic girdle muscle... OMIM:615156
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Bacterial endocarditis, Spontaneous, recurrent epistaxis, Abnormality of the spleen, C... ORPHA:2072
Sudden Cardiac Failure, Infantile
Myocarditis, Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Bradyca... OMIM:617222
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia, Scoliosis, Hyperlordosis ORPHA:2310
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Proteinuria, Inflammation of the large intestine, Gout, Enlarged kidney... OMIM:232220
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Analbuminemia
Low pulse pressure, Increased circulating antibody level ORPHA:86816
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Muscular dystrophy, Cardiomyopathy, Hypoglycosylation of alpha-dystroglycan... OMIM:609308
Gaucher Disease Type 1
Proteinuria, Pulmonary arterial hypertension, Gingival bleeding, Leukopenia, Biliary tract obstru... ORPHA:77259
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Maculopapular exanthema, Internal hemorrhage, Abnormal ble... ORPHA:99826
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Muscular dystrophy, Skeletal muscle ... OMIM:616812
Myopathy, Centronuclear, 2
High palate, Scoliosis, Respiratory insufficiency due to muscle weakness, EMG: myopathic abnormal... OMIM:255200
Congenital Muscular Dystrophy Due To Lmna Mutation
Myopathy, Respiratory insufficiency, Arrhythmia, Skeletal muscle atrophy, Spinal rigidity, Conges... ORPHA:157973
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Vasculitis, Hemophagocytosis, Aplastic anemia, Fulminant hepati... OMIM:308240
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Recurrent respiratory infections, Decreased testicular size, High palate, Lumbar hyperlordosis, M... ORPHA:3041
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Pneumonia, Hypo... OMIM:601005
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, B lymphocytopenia, Hypothyroidism, Erythema nodosum, Recurrent respiratory infections, R... OMIM:614700
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Kypho... ORPHA:536516
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hepatosplenomegaly, Scoliosis, Lower limb muscle weakness, Respiratory insufficiency due to muscl... ORPHA:2590
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Wiskott-Aldrich Syndrome
Chronic otitis media, Gingival bleeding, Chronic pulmonary obstruction, Hemolytic anemia, Intracr... ORPHA:906
Gm1 Gangliosidosis
Macroglossia, Recurrent respiratory infections, Camptodactyly of finger, Aplasia/Hypoplasia of th... ORPHA:354
Carnitine Palmitoyltransferase I Deficiency
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... OMIM:255120
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Tricuspid regurgitation, Atrial flu... OMIM:614022
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly OMIM:609218
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Abnormality of the vertebral column, Cardiomyopathy, Urinary ... ORPHA:52430
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:98863
Macroglossia, Recurrent respiratory infections, Vacuolated lymphocytes, Scoliosis, Lumbar hyperlo... OMIM:230000
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Leukocytosis, Leukopenia, Hypotension, Cough, Hypoxemia, Nonproductive cough,... ORPHA:36238
Malignant Atrophic Papulosis
Abnormal conjunctiva morphology, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Respiratory insufficiency due to muscle weakness, Spinal r... ORPHA:98853
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Rat-Bite Fever
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Skin rash,... ORPHA:31205
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Oligomenorrhea, Hypogonadism, Distal amyotrophy, Pancreatitis, Infertility, Delayed menarche, Dys... ORPHA:412057
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Uveitis, Keratoconjunctivitis sicca, Hepatomegaly, Autoimmune hemolytic anemia... OMIM:617388
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Esophageal carcinoma, Hepatic bridging fibrosis, Increased... ORPHA:139507
Autosomal Recessive Polycystic Kidney Disease
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Protein-losing enteropathy, Hypoventil... ORPHA:731
Late-Onset Isolated Acth Deficiency
Graves disease, Premature ovarian insufficiency, Normocytic anemia, Adrenocorticotropin deficient... ORPHA:199299
Congenital Multicore Myopathy With External Ophthalmoplegia
Scoliosis, Type 1 muscle fiber predominance, Respiratory failure, Recurrent respiratory infection... ORPHA:98905
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Microphthalmia, Ptosis OMIM:300915
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature v... OMIM:212138
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Atrial septal defect, Heavy proteinuria, Abnormal heart morphology, Tricuspid re... ORPHA:505248
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis, Renal tubular acidosis, Organic aciduria ORPHA:431361
Citrullinemia, Type Ii, Adult-Onset
Hepatocellular carcinoma, Pancreatitis, Elevated circulating alanine aminotransferase concentrati... OMIM:603471
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Microphthalmia, Corneal opacity, Posterior embryotoxon, Ptosis ORPHA:1473
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Scoliosis, Kyphosis, Abnormal ... ORPHA:1548
Myasthenic Syndrome, Congenital, 16
High palate, Hyperlordosis, Apnea OMIM:614198
Carnitine Deficiency, Systemic Primary
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Decreased carnitin... OMIM:212140
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Hypothyroidism, Kyphoscoliosis, Recurrent respiratory infections, Restrictive ventilat... OMIM:607944
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypopituitarism, High palate, Restrictive ventilatory defect, Hypochromic anemia, Pappenheimer bo... OMIM:600462
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczema, Hepatic failure, Hemolytic anemia OMIM:177000
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Transient ischemic attack, Bilate... OMIM:242900
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia... OMIM:266265
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Absent muscle fiber emerin, Spinal rigidity, Achilles tendon contracture, Supraventric... ORPHA:98855
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Pneumonia, Eczema, Asthma, Splenomegaly OMIM:607271
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, B lymphocytopenia, Pneumonia, Panhypogammaglobulinemia, Conjunctivi... OMIM:601457
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Recurrent lower respiratory tract infections, Decreased eosinophil count, Pleura... OMIM:619632
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Familial Anetoderma
Lumbar hyperlordosis, High, narrow palate ORPHA:228277
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Hypoxemia, Abnormal platelet granules, Respiratory distress, Giant platelets, Thrombocytopenia, P... ORPHA:238459
Familial Thyroid Dyshormonogenesis
Macroglossia, Positive perchlorate discharge test, Decreased circulating T4 concentration, Increa... ORPHA:95716
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute kidney injury, Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemi... ORPHA:90038
Pneumonia ORPHA:1083
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Kyphosis, Hypergonadotropic hypogo... ORPHA:3085
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Recurrent respiratory infections, Bronchiectasis, Decreased proportion of cla... OMIM:619126
Hereditary Spherocytosis
Jaundice, Maculopapular exanthema, Gout, Reticulocytosis, Increased mean corpuscular hemoglobin c... ORPHA:822
Braddock-Carey Syndrome 1
Camptodactyly, Anteriorly placed anus, Ventricular septal defect, Cleft palate, Thrombocytopenia,... OMIM:619980
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Irregular vertebral endplates, Platyspondyly,... OMIM:609223
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Pulmonary arterial hypertension, Scoliosis, Furrowed tongue, Ventricular septal d... ORPHA:464738
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Lumbar hyperlordosis, Shoulder girdle muscle weakness, Myopathy, Distal amyotrophy, Pelvic girdle... OMIM:167320
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Abnormal sacrum morphology, Scoliosis, Short neck, Cleft palate... ORPHA:1797
Diastrophic Dysplasia
Scoliosis, Lumbar hyperlordosis, Cleft palate, Cervical kyphosis, Hip contracture, Hypoplastic ce... OMIM:222600
Crisponi/Cold-Induced Sweating Syndrome 2
Thoracolumbar scoliosis, Weakness of facial musculature, High palate, Lumbar hyperlordosis OMIM:610313
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hyperventilation, Thrombocytopenia, Normochromic anemia, Pericardial e... OMIM:618775
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren... OMIM:615513
Lymphatic Filariasis
Knee osteoarthritis, Proteinuria, Glomerulonephritis, Orchitis, Hypereosinophilia, Restrictive ve... ORPHA:2035
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Intermittent jaundice, Polycythemia, Hemolytic anemia, Reticu... ORPHA:3202
Trisomy 8P
Hydronephrosis, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Nephrocalcinosis, Micropen... ORPHA:264450
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Anal atresia, Vasculitis, Hemolytic anemi... ORPHA:1572
Congenital Bile Acid Synthesis Defect Type 4
Rhabdomyolysis, Cholestatic liver disease, Hematochezia, Hypogonadism, Elevated hepatic transamin... ORPHA:79095
Striatonigral Degeneration, Childhood-Onset
Dysphagia, Lumbar hyperlordosis OMIM:617054
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Pneumonia, Bradycardia, Tachycardia ORPHA:70587
Monosomy 18P
Epicanthus, Autoimmunity, Hypertension, Microphthalmia, Hypothyroidism, Webbed neck, Ptosis ORPHA:1598
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Scoliosis, Cryptorchidism, Hyperlordosis, Furrowed tongue, Hypogonadotropic hypogona... ORPHA:1387
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal spleen morphology, Multiple renal cysts, Abnormal bleeding, Epistaxis, ... ORPHA:464329
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Scapular winging, Achilles tendon contracture, Calf muscle pseudohypertrophy,... ORPHA:62
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension OMIM:616299
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Camptodactyly, Gastroesophageal reflux, Lumbar hyperlordosis, H... OMIM:613385
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Asplenia, Ventricular septal defect, Atrial septal defect, Hydroureter, T... OMIM:265380
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Hematochezia, Prolonged prothrombin time, Elevated circulating aspar... OMIM:613812
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Restrictive ventilatory defect, Muscular dystrophy, Muscle fiber atrophy, Hepatomegaly,... ORPHA:369840
Acquired Partial Lipodystrophy
Microscopic hematuria, Proteinuria, Myopathy, Lymphocytosis, Hepatic steatosis ORPHA:79087
Immunodeficiency 13
Decreased CD4:CD8 ratio, Nasal polyposis, Bronchiolitis obliterans organizing pneumonia, Lymphope... OMIM:615518
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology, Hypohidrosis OMIM:125595
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Recurrent... OMIM:300853
Lysinuric Protein Intolerance
Oroticaciduria, Stage 5 chronic kidney disease, Hemophagocytosis, Hyperlysinuria, Respiratory ins... OMIM:222700
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Lymphocytosis OMIM:606445
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Camptodactyly, Astigmatism, Knee flexion contracture, Upslanted palpebral fissure, Micr... OMIM:619694
Avian Influenza
Productive cough, Hypoxemia, Respiratory failure, Pneumothorax, Myelitis, Dyspnea, Leukopenia, Ly... ORPHA:454836
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Recurrent respiratory infections, Myeloproliferative disorder, Leukocytosis... ORPHA:3226
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Atopic dermatitis, Cough, Arrhythmia, Glucocortocoid-insensitive primary hyper... ORPHA:171876
Peeling Skin Syndrome 1
Asthma, Erythroderma, Palmoplantar hyperhidrosis, Eosinophilia OMIM:270300
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Limbal stem... ORPHA:2334
Immunodeficiency 40
Rectal fistula, Elevated circulating aspartate aminotransferase concentration, Eosinophilic granu... OMIM:616433
Peripartum Cardiomyopathy
Myocarditis, Autoimmunity, Reduced left ventricular ejection fraction, Increased circulating inte... ORPHA:563
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Muscle fiber splitting, Myopathy, Fatty replacement of skeletal muscle, Scap... OMIM:618129
Atelis Syndrome 1
High palate, Leukopenia, Anemia, Ventricular septal defect, Atrial septal defect, Thrombocytopeni... OMIM:620184
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Horseshoe kidney, Ventricular septal defect, Atrial sep... OMIM:274000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Anophthalmia, Microphthalmia ORPHA:85275