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 bone mineral content Thbs1tm1.1(KOMP)Vlcg HOM Early adult 1.90×10-05
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
abnormal lung morphology Thbs1tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased circulating aspartate transaminase level Thbs1tm1.1(KOMP)Vlcg HOM Early adult 2.74×10-05
increased circulating alanine transaminase level Thbs1tm1.1(KOMP)Vlcg HOM Early adult 7.64×10-16

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Not available
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 Not available
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 Not available
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
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 Hind Leg and Hip

10 Images


XRay Images Forepaw

10 Images


XRay Images Skull Lateral Orientation

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

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
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Cystic Echinococcosis
Abnormality of the vertebral column, Abnormality of the testis size, Pulmonary cyst, Ovarian cyst... ORPHA:400
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... OMIM:619644
Abnormality of the vertebral column, Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitiv... ORPHA:1163
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Thoracolumbar scoliosis, Bronchiectasis, Eczema, Recurrent ... OMIM:618523
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Myocardial eosinophilic infiltration, Recurrent bronchitis, Anemia, T... OMIM:131400
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Rigid Spine Syndrome
Hamstring contractures, Pneumonia, Abnormality on pulmonary function testing, Skeletal muscle atr... ORPHA:97244
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, High palate, Recurrent skin infections, Bronchiectasis, Ecz... OMIM:618282
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Biconvex vertebral bodies, Splenomegal... OMIM:616651
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Hydronephrosis, Anemia, Mitral regurgitation, Hypoplasia of the thymus, Lymphopen... OMIM:612541
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Cardiomegaly OMIM:227150
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, High palate, Cutaneous abscess, Scoliosis, Eczematoid dermatit... OMIM:147060
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Arthritis, Abnormal pleura morphology ORPHA:2582
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Recurrent o... ORPHA:353298
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal pericardium morphology, Abnormal skeletal muscle morphology, Cholangi... ORPHA:284
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Asthma, Decreased proportion of CD4-po... OMIM:243700
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Proteinuria, Hypertension, Dysphagia, Skin rash, Congestive hear... ORPHA:183
Caroli Syndrome
Hepatic failure, Cholangitis, Polycystic kidney dysplasia, Intrahepatic cholestasis, Hematemesis,... ORPHA:480520
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media OMIM:608971
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Flexion contracture, Ventricular tachycardia, ... ORPHA:1344
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphadenitis, Nephrotic syndrome, Colit... ORPHA:911
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... ORPHA:169160
Legionnaires Disease
Proteinuria, Hepatitis, Pancreatitis, Lymphopenia, Arrhythmia, Infectious encephalitis, Abnormal ... ORPHA:549
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Hypoplastic left heart, Duodenal stenosis, Ventricular septal defect, Atrioventri... ORPHA:210122
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Abnormality of the ureter, Intestinal malrotation, Pancreatic hypoplasia, T-wave inversion, Abnor... ORPHA:1666
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis, Respiratory insufficiency, Dysphagia, Pancreatitis OMIM:618230
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Flexion contracture, Hypertrophic cardiomyopathy,... OMIM:618815
Systemic Capillary Leak Syndrome
Oliguria, Leukocytosis, Arrhythmia, Myocarditis, Cough, Rhinorrhea, Pleural effusion, Hypotension... ORPHA:188
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Cardiac arrest, Infectious encephalitis, Interstitial pneumonit... ORPHA:139402
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Abnormal bleeding, Thrombocytopenia ORPHA:517
Interstitial cardiac fibrosis, Uveitis, Hypohidrosis, Abnormality of the small intestine, Episcle... ORPHA:801
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Crohn's disease, Lymphadenitis, Neph... OMIM:618935
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Short neck, Kyphosis, Increased variability in muscl... OMIM:300718
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Hepatomegaly, Pneumonia OMIM:269840
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Dysphagia, Inflammatory abnormality of t... ORPHA:3260
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Pneumonia, Nephrotic ... ORPHA:39041
Bronchogenic Cyst
Bronchogenic cyst, Abnormal myocardium morphology, Abnormal stomach morphology, Pneumonia, Abnorm... ORPHA:2357
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Respiratory distress, Pancreatit... ORPHA:79312
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Limb muscle weakness, Scoliosis, Dysphagia, Arthr... OMIM:256030
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, De... ORPHA:811
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Decreased proporti... ORPHA:169154
Schimke Immuno-Osseous Dysplasia
Proteinuria, Anemia, Hypertension, Microscopic hematuria, Pancreatitis, Stage 5 chronic kidney di... ORPHA:1830
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Erythroder... OMIM:603554
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dysuria, Anemia, Dysphagia, Pancreatitis, Abnormality of the urethra... ORPHA:36426
Immunodeficiency 23
Eosinophilia, High palate, Vasculitis in the skin, Asthma, Abscess, Neutropenia, Eczema, Bronchie... OMIM:615816
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Reduced forced expiratory volume in one sec... OMIM:219700
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Asthma, Acute myeloid leukemia, Eczema, Ref... OMIM:616871
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Cataract, Bradycardia OMIM:617248
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hypothyroidism, Hepatosplenomegaly, Nephrotic syndrome, Eosinophilic liver infiltra... OMIM:618999
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Igg4-Related Pachymeningitis
Eosinophilia, Sinusitis, Lymphadenitis, Abnormality of the cervical spine, Parotitis, Lower limb ... ORPHA:449427
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Cardiomyopathy, Pancreatitis, Respiratory in... ORPHA:27
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Reduced forced vital capacity, Thoracolumba... OMIM:255600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Petechiae, Nephrotic syndrome, Gastrointestinal hemorrhage, Coombs-positive hemolyt... OMIM:603909
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Atlantoaxial instability, Os odontoideum, Spondylolysis, Respiratory failure... OMIM:600561
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hepatomegaly, Neutropenia, Anemia, Respiratory distress, Pancreatitis,... ORPHA:289916
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Ragged-red muscle fibers, Cataract, EMG: myopathic abnormalities, Ptosis, Limb muscle... OMIM:609286
Eosinophilic Gastroenteritis
Eosinophilia, Hematochezia, Abnormality of the gastrointestinal tract, Leukocytosis, Asthma, Anem... ORPHA:2070
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Impaired... OMIM:618986
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Nemaline Myopathy 3
Dilated cardiomyopathy, High palate, Nemaline bodies, Facial palsy, EMG: myopathic abnormalities,... OMIM:161800
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Proximal lower limb amyotrophy, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip... OMIM:600175
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Nemaline Myopathy 7
High palate, Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, ... OMIM:610687
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Recurrent skin infections, Monocytosis, Micropenis OMIM:610680
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Flexion contracture, Pneumonia, Ske... OMIM:253700
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Dysuria, Anemia, Dysphagia, Pancreatitis, Ab... ORPHA:537
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pneumonia, Sinusit... OMIM:102700
Beta-Thalassemia Intermedia
Hypothyroidism, Persistence of hemoglobin F, Cholelithiasis, Decreased liver function, Jaundice, ... ORPHA:231222
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Sp... ORPHA:848
Propionic Acidemia
Pancytopenia, Cerebellar hemorrhage, Tachypnea, Limb hypertonia, Hepatomegaly, Neutropenia, Anemi... OMIM:606054
Combined Immunodeficiency-Enteropathy Spectrum
Rectal abscess, Hashimoto thyroiditis, Intestinal malrotation, Autoimmune hemolytic anemia, Jejun... ORPHA:436252
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Interosseus muscle atrophy, Reduced vital capacity, Distal amyotrophy, Distal lowe... OMIM:607088
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Microcornea, Cataract, Microphthalmia, Epicanthus ORPHA:2528
Autoimmune Lymphoproliferative Syndrome
Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Recurr... ORPHA:3261
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Proteinuria, Hydronephrosis, Prostatitis, Hypertension, Otitis media... ORPHA:900
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Hyperlordosis, Scoliosis, Reduced vital capacity, Rimmed vacuoles, Calf ... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Prox... OMIM:253600
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Cerebellar hemorrhage, Tubulointerstitial nephritis, Hepatome... OMIM:251000
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia OMIM:614302
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Primary amenorrhea, Polycystic ovaries, Dysmenorrhea, Congestive heart failure... ORPHA:79083
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopeni... OMIM:304790
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Abnormal macrophage morphology, Left ventricular systolic dysfunctio... ORPHA:353
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Hyperlordosis, Limb muscle weakness, Respiratory insufficiency due t... OMIM:603034
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal form of the vertebral bodies, Hyperlordosis, Abnormal a... ORPHA:577
Myasthenic Syndrome, Congenital, 14
High palate, Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Hyperlor... OMIM:616228
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Anal atresia, Platyspondyly, Erythroderma, Cervical instability, Kyphoscoliosis, Ly... OMIM:617425
Adult Idiopathic Neutropenia
Monocytosis, Helicobacter pylori infection, Recurrent aphthous stomatitis, Neutropenia, Monocytop... ORPHA:2688
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Pneumonia, Splenomegaly, Hepatomegaly, Recurrent bro... OMIM:607594
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Crypto... OMIM:613156
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Anemia, Arthritis, Skin rash OMIM:607115
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membr... ORPHA:449395
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal eosinophil morphology, Abnormal pattern of respiration, ... ORPHA:724
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevate... OMIM:600649
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... ORPHA:331206
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Atria... OMIM:208540
Vernal Keratoconjunctivitis
Punctate keratitis, Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, Cornea... ORPHA:70476
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Pancreatic hypoplasia, Tracheoesophageal fistula, ... OMIM:601346
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, T lymphocytopenia, Sinusitis, Recurrent otitis media, Pulmonary insufficiency, Recu... ORPHA:277
Sandhoff Disease
Kyphosis, Congestive heart failure, Splenomegaly, Hepatomegaly, Recurrent respiratory infections ORPHA:796
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Rhabdomyolysis, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolong... ORPHA:466650
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Scol... OMIM:611067
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Episcleritis, Ventricular septal defect, Cardiomegaly, Decreased response to growt... OMIM:602782
Abnormality of the vertebral column, Pancreatitis, Exudative pleural effusion, Skin rash, Abnorma... ORPHA:228123
Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis, Pancrea... ORPHA:2552
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs i... OMIM:612444
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Paraspinal muscle hypertrophy, Knee flexion contracture, Lumbar hyperlordosis, Congenital foot co... OMIM:602484
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cleft vertebral arch, Superficial dermal perivascular inflammatory infiltrate, Co... ORPHA:83617
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Hematuria, Rhinorrhea, Me... OMIM:158310
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Cough, Eczema, Osteomyelitis, Atelectasis, Recurrent respiratory infections, Chroni... ORPHA:2314
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Scoliosis, Myopathy, Hyperlordosis ORPHA:408
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Cryptorchidism, Abnormal mitral valve morphology, Hyperlordosis,... ORPHA:1192
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Bilateral microphthalmos, Cataract, Decreased muscle mass OMIM:608763
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Intestinal malrotation, Pancreatic hypoplasia, Jejunal atresia, ... OMIM:615710
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Congestive heart failure, Hypertrophic cardi... ORPHA:2348
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616276
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Restrictive ventilatory defect, Kyphosis, Congenital muscular dystro... OMIM:606612
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Primary amenorrhea, Flexion contracture, Renal hypoplasia, Se... ORPHA:135
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Foot dorsiflexor weakness, Kyphosis, Scoliosis OMIM:617087
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Hypogonadotropic hypogonadism, Myopathy, Lumbar hyperlordosis OMIM:253320
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Thoracic scoliosis, Thoracic kyphosis, Absent muscle dystrophin expressio... ORPHA:206546
Myopathy, Congenital, With Tremor
High palate, Flexion contracture, EMG: myopathic abnormalities, Lumbar hyperlordosis, Scoliosis, ... OMIM:618524
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Hypertension, Pancreatitis ORPHA:79084
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Priapism, Leukocytosis, Hypoxemia, Hematuri... OMIM:603903
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Abnormal axonemal organization of respiratory motile cil... OMIM:613807
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Flexion contracture, Abnormality of the Achilles tendon, Hand muscle weakness, Hyperlordosis, Con... ORPHA:363454
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pelvic girdle amyotrophy, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Hy... ORPHA:267
Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Acute infectious pn... ORPHA:73263
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Shock, Respiratory failure, Hypotension, Dyspnea, Vasculitis, Pancreatitis,... ORPHA:70578
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Hepatic periportal necrosis, Polycystic kidney dysplasia, Cardiorespiratory arres... ORPHA:26791
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Elevated hepati... OMIM:617713
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD4-positive helper T cells, Severe platyspondyly, Lymphopenia, Recurrent... ORPHA:508533
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, L... ORPHA:53035
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Hyperlordosis, Proximal amyotrophy, Back pain, Myopathy, Scapular winging OMIM:618129
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypopla... OMIM:610199
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Hepatic failure, Proteinuria, Bundle branch block, Epid... ORPHA:99827
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, ... OMIM:312863
Spastic Paraplegia 18, Autosomal Recessive
High palate, Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness, Scoliosis OMIM:611225
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short neck, Platyspondyly, Horizontal sacrum, Lumbar ... OMIM:256050
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Hyperlordosis, Exertional dyspnea, Obst... ORPHA:352470
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Lymphopenia, Plasmacytosis OMIM:247800
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Hypoxemia, Cholestasis, Thr... ORPHA:232
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Aspiration pneumonia, Scapular winging, ... OMIM:619477
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Patent ductus arteriosus after birth at t... OMIM:618782
Familial Mediterranean Fever
Erysipelas, Proteinuria, Pancreatitis, Skin rash, Nephrocalcinosis, Arrhythmia, Osteoarthritis, A... ORPHA:342
Primary Lipodystrophy
Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Congestive heart failure, Splenomegaly, ... ORPHA:90970
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Skeletal muscle atrophy, Megaloblastic anemia, Gastroesophageal reflu... ORPHA:90045
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Inf... ORPHA:562639
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block, Epicanthus, Antecubital pterygium, Hypoplasia o... ORPHA:40366
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Mccune-Albright Syndrome
Pancytopenia, Irregular menstruation, Cholestasis, Increased circulating prolactin concentration,... ORPHA:562
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Coronal cleft vertebrae, Hyperlordosis, Abnormal vertebral morphology, Scoliosis, Hi... OMIM:618363
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, P... ORPHA:171
Absent/hypoplastic coccyx, Flexion contracture, Vacuolated lymphocytes, Anterior beaking of lumba... OMIM:230000
Eosinophilic Fasciitis
Eosinophilia, Myositis, Abnormal eosinophil morphology, Muscular edema, Fasciitis, Arthritis ORPHA:3165
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cardiomegaly, Osteoporosis, Pleural effusion, Splen... OMIM:235200
Matthew-Wood Syndrome
Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Congenital diaphr... ORPHA:2470
Hereditary Hemorrhagic Telangiectasia
Microcytic anemia, Hepatic failure, Gastrointestinal hemorrhage, Abnormal cardiovascular system p... ORPHA:774
Immunodeficiency 49
Eosinophilia, Lymphopenia, Pulmonary artery stenosis, Inflammatory abnormality of the skin OMIM:617237
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Hepatic steatosis, Homocystinuria, Myocardial infarction, Methioninuria, Scoliosis, ... OMIM:236200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Congenital hypothyroidism, Hypoplasia of right ventricle, Vent... ORPHA:2255
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Restrictive v... OMIM:607155
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Hypereosinophilia OMIM:212050
Immunodeficiency 92
Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Thrombocytosis, Hepatomegaly, Osteo... OMIM:619652
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic ane... OMIM:232800
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Respiratory insufficiency, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Asthma, Recurrent respiratory infections, Recurrent sinusitis, Atop... ORPHA:217390
Idiopathic Achalasia
Gastroesophageal reflux, Cough, Dysphagia, Recurrent aspiration pneumonia, Wheezing, Bronchitis ORPHA:930
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Autoimmune hemolytic anemia, Erythroderma OMIM:610163
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Microglossia, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Clef... ORPHA:141152
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Ventricular septal defect, Patent foramen ovale, Intestinal malrotation, Truncus arte... OMIM:600001
Pentalogy Of Cantrell
Absent gallbladder, Tetralogy of Fallot, Abnormal pericardium morphology, Atrial septal defect, H... ORPHA:1335
Behçet Disease
Optic neuritis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Pancreatitis, Mitral ... ORPHA:117
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Epistaxis, Fat malabsorption, Intrahepatic cholestasis with episodic jaundice, Sp... OMIM:211600
Igg4-Related Ophthalmic Disease
Eosinophilia, Sinusitis, Abnormality of the anterior pituitary, Abnormality of the extraocular mu... ORPHA:449563
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Infectious encephalitis, Splenomegaly, Hepatomeg... OMIM:308240
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Left ventricular hypertrophy, Congestive heart failure OMIM:619048
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Nephrocalcinosis, Female hypogonadism, Pri... OMIM:240300
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Netherton Syndrome
Hypereosinophilia, Asthma, Erythroderma, Allergic rhinitis, Intestinal atresia, Villous atrophy, ... OMIM:256500
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Hypertension, Pancreatitis, Thrombocytopenia, Acute kidney injury, Myocar... ORPHA:544482
Microscopic Polyangiitis
Oliguria, Sinusitis, Uveitis, Gastrointestinal hemorrhage, Hematuria, Arthritis, Arrhythmia, Peri... ORPHA:727
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia OMIM:618092
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Limb-girdle muscular dystrophy, Muscular dystrophy, Hyperlordosis, Hepatomegal... ORPHA:369840
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased variability in muscle fiber diameter, Hypertension, Scapular winging, Centrally nucleat... ORPHA:437572
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Irregular menstruation, Proteinuria, Chronic neutropenia, Anemia, Pulmonary venou... ORPHA:79259
Igg4-Related Aortitis
Hypereosinophilia, Asthma, Hydronephrosis, Increased inflammatory response, Low back pain, Intest... ORPHA:449400
Triosephosphate Isomerase Deficiency
Cholelithiasis, Kyphosis, Normocytic anemia, Skeletal muscle atrophy, Congestive heart failure, C... OMIM:615512
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased inflammator... OMIM:209950
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Hematemesis, ... OMIM:301068
Glycogen Storage Disease Xii
Cholelithiasis, Short neck, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocy... OMIM:611881
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia, Dysphagia OMIM:610247
Primary Ciliary Dyskinesia
Recurrent otitis media, Double outlet right ventricle, Productive cough, Male infertility, Recurr... ORPHA:244
King-Denborough Syndrome
High palate, Minicore myopathy, Thoracic kyphosis, Short neck, Cryptorchidism, Type 1 muscle fibe... OMIM:619542
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated hepatic transaminase OMIM:300752
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Arthritis, Panhypogammaglobulinemia, B lymphocyt... OMIM:601457
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Testicular atrophy, Atrial f... OMIM:160900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Achilles tendon contracture, Hyperlordosis, Knee flexion contracture, Hip contracture, Scapular w... OMIM:615290
Myopathy, Centronuclear, 2
High palate, Flexion contracture, Kyphosis, Generalized amyotrophy, EMG: myopathic abnormalities,... OMIM:255200
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Proteinuria, Anemia, Scoliosis, Hypertension, Stage 5 chronic kidney disease, Lef... OMIM:619487
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
High palate, Thoracic kyphosis, Micropenis, Thoracolumbar scoliosis, Kyphoscoliosis, Recurrent re... ORPHA:3041
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis, Anal atresia ORPHA:2310
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hypothyroidism, Recurrent upper respiratory tract infections, ... OMIM:615952
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thrombocyto... ORPHA:319218
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... ORPHA:1354
Hypothyroidism, Hepatic failure, Uveitis, Increased T cell count, Maculopapular exanthema, Anemia... ORPHA:797
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pleural thickening, Decreased eosinophil count, Asthma, Bronchiectasis, Pulmonar... OMIM:619632
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Hepatic steatosis, Congestive heart failure, Generalized amy... ORPHA:52430
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Nephrotic syndrome, Short neck, Ovoid vertebral bodies, Proteinuria, Thrombocy... OMIM:242900
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Skeletal muscle atrophy, Congestive heart failure, Hyperlordosis... ORPHA:157973
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Decreased liver function, Eczema, Cirrhosis ORPHA:79278
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Myasthenic Syndrome, Congenital, 16
Apnea, Hyperlordosis, High palate OMIM:614198
Thrombocytopenia-Absent Radius Syndrome
Shoulder muscle hypoplasia, Eosinophilia, Tetralogy of Fallot, Hepatosplenomegaly, Leukocytosis, ... OMIM:274000
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Hypothyroidism, Uveitis, Chronic neutropenia, Autoimmune he... OMIM:614700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Limb-girdle muscle weakness, Muscular dystrophy, Lumbar hyperlordosis, Cardi... OMIM:609308
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Hors... OMIM:156810
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Pneumonia, Chronic bronchitis OMIM:614069
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Scoliosis, Myopath... OMIM:618234
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Uveitis, Maculopapular exanthema, Pancreatitis, Prolonged prothrombin... ORPHA:99826
Gm1 Gangliosidosis
Hepatosplenomegaly, Abnormal form of the vertebral bodies, Kyphosis, Congestive heart failure, In... ORPHA:354
Peripheral Primitive Neuroectodermal Tumor
Abnormal thoracic spine morphology, Lower limb muscle weakness, Jaundice, Ovarian neoplasm, Back ... ORPHA:370348
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Idiopathic Congenital Hypothyroidism
Bradycardia, Decreased circulating T4 level, Macroglossia ORPHA:95717
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Multicyst... ORPHA:3032
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Anemia, Scoliosis, Aortic valve calcification, Thrombocytopenia, Abnormal pulmonary... ORPHA:2072
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, High palate, Reduced forced vital capacity, Facial palsy, Limb joint cont... OMIM:255310
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Corneal scarring, Bradycardia, Tachycardia, Hyperhidrosis OMIM:614653
2Q24 Microdeletion Syndrome
Cataract, Downslanted palpebral fissures, Microphthalmia, Camptodactyly of finger, Abnormality ir... ORPHA:1617
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98863
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Keratoconus, Ventricular esc... ORPHA:542306
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Coronary artery stenosis, Vacuolated lymphocytes, Arrhythmia, Abnormality of t... ORPHA:565612
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Hypoxemia, Pneumonia, Neut... ORPHA:36238
Gaucher Disease Type 1
Pancytopenia, Abnormal myocardium morphology, Bruising susceptibility, Leukopenia, Kyphosis, Bili... ORPHA:77259
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent pneumonia, Pneumonia, Hepatomegaly, Impaired lymphocyte transformati... OMIM:300400
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Parotitis, Arthritis, Maculopapular exanthema, Endocarditis, Myo... ORPHA:31205
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Leukocytosis, Erythema nodosum, Pneumonia, Cutaneous abscess, Inflammatory abnormality of the eye... ORPHA:3392
Malignant Atrophic Papulosis
Abnormal conjunctiva morphology, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Abnormal skeletal muscle morphology, Cryptorchidism, Incr... ORPHA:98905
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Polycystic kidney dysplasi... ORPHA:731
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mucopolysaccharidosis, Type Iva
Keratan sulfate excretion in urine, Recurrent upper respiratory tract infections, Abnormal heart ... OMIM:253000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Urinary glycosaminoglycan excretion, Macroglossia, Anemia, Mitral regurgitation, Thr... ORPHA:505248
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Hypothyroidism, Rheumatoid arthritis, Scoliosis, Lymphopenia, Juvenile rh... OMIM:607944
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Congenital Analbuminemia
Low pulse pressure, Increased circulating antibody level ORPHA:86816
Familial Anetoderma
Lumbar hyperlordosis, High, narrow palate ORPHA:228277
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Long eyebrows, Atrioventricular block, Joint contracture of the 5th finger OMIM:614407
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Ptosis, Microphthalmia, Iris coloboma ORPHA:1473
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Fat malabsorption, Megaloblastic anemia, Steat... ORPHA:309108
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Autoimmune hemolytic anemia, Splenomegaly, Hepato... OMIM:617388
Timothy Syndrome
Hypothyroidism, Pneumonia, Patent ductus arteriosus, Prolonged QT interval, Bradycardia OMIM:601005
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Thoracic kyphosis, Intervertebral space narrowing, Platyspondyly, Lumbar hyperlordosis, Scoliosis... OMIM:609223
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platelet morphology, ... ORPHA:906
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Giant platelets, Pulmonary hemorrhage, Abnormal pl... ORPHA:238459
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Foveal Hypoplasia 2
Posterior embryotoxon, Microphthalmia, Axenfeld anomaly, Hypoplasia of the fovea OMIM:609218
Cholelithiasis, Hepatosplenomegaly, Sleep apnea, Hepatomegaly, High, narrow palate, Upper airway ... ORPHA:3166
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Scoliosis, Abnormal ... ORPHA:1548
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Short neck, Hyperlordosis, Recurrent respiratory infections, Scoliosi... ORPHA:1797
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Hypothyroidism, Oligomenorrhea, Distal amyotrophy, Iridocyclitis, Dysphagia, Pancrea... ORPHA:412057
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Central sleep apnea, Organic aciduria, Pancreatitis, Aspiration pneumonia ORPHA:431361
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Thoracic scoliosis, Muscular dystrophy, Hyperlordosis, Calf muscle p... ORPHA:62
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczema, Hepatic failure, Hemolytic anemia OMIM:177000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Schistocytosis, Leukocytosis, Colonic stenosis, Acute kidney injury, Anur... ORPHA:90038
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Decreased plasma carnitine, Hypertrophic cardiomyo... OMIM:212140
Common Variable Immunodeficiency
Emphysema, Gastrointestinal stroma tumor, Abnormality of the liver, Pneumonia, Restrictive ventil... ORPHA:1572
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture OMIM:614498
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Polycystic ovaries, Cryptorchidism, Hyperlordosis, Secondary amenorrhea, Hypergonadotro... ORPHA:3085
Late-Onset Isolated Acth Deficiency
Eosinophilia, Orthostatic hypotension, Normocytic anemia, Hashimoto thyroiditis, Graves disease, ... ORPHA:199299
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Mucopolysaccharidosis, Type Ivb
Keratan sulfate excretion in urine, Recurrent upper respiratory tract infections, Restrictive ven... OMIM:253010
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Thrombocytosis, Coombs-positive hemolytic anemia, Hemolytic anemia, ... OMIM:614034
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperprolinemia, Recurrent lower respiratory tract infe... OMIM:619170
Recurrent otitis media, Spinal stenosis with reduced interpedicular distance, Lumbar hyperlordosi... OMIM:100800
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pneumonia, Hypotension, Bradycardia, Tachycardia ORPHA:70587
African Iron Overload
Viral hepatitis, Hepatic steatosis, Increased circulating cortisol level, Congestive heart failur... ORPHA:139507
Acquired Partial Lipodystrophy
Hepatic steatosis, Proteinuria, Myopathy, Microscopic hematuria, Lymphocytosis ORPHA:79087
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Hereditary Spherocytosis
Cholelithiasis, Maculopapular exanthema, Increased mean corpuscular hemoglobin concentration, Spl... ORPHA:822
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Monosomy 18P
Webbed neck, Hypothyroidism, Autoimmunity, Ptosis, Microphthalmia, Hypertension, Epicanthus ORPHA:1598
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... OMIM:212138
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Hypogonadotropic hypogonadism, Cryptorchidism, Hyperlordosis, Furrowed tongue, Scoli... ORPHA:1387
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Thoracic kyphoscoliosis, Hypothyroidism, Portal hypertension, Reduced forced expira... OMIM:613385
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Anemia, Thrombocytopenia, Bruising susceptibility, Ecchymosis, Cough,... ORPHA:464329
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis, Recurrent pneumonia, Kyphosis, Atrial septal defect, Hydronephrosis, Hypospadias,... ORPHA:464738
Lymphatic Filariasis
Restrictive ventilatory defect, Hypereosinophilia, Lymphadenitis, Nephrotic syndrome, Orchitis, K... ORPHA:2035
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections, Recurrent sino... OMIM:615513
Pneumonia ORPHA:1083
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cataract, Ptosis OMIM:120433
Trisomy 8P
Malrotation of small bowel, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Ab... ORPHA:264450
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Caspase 8 Deficiency
Pneumonia, Asthma, Decreased CD4:CD8 ratio, Splenomegaly, Eczema, Recurrent sinopulmonary infections OMIM:607271
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Recurrent pneumonia, Pulmonary pneumatocele, Recurrent upper respiratory tract infec... OMIM:619752
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportio... OMIM:300853
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia, Ankyloblepharon ORPHA:85275
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypo... ORPHA:2334
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Respiratory failu... ORPHA:90117
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Microcornea, Cataract OMIM:616171
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Hyperventilation, Ventricular septal defect, Bradyca... OMIM:618775
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology, Hypohidrosis OMIM:125595
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Hypoplastic left heart, Ventricular ... OMIM:265380
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal urinary color, Hepatomegaly, Jaundice, Abnormal gastric mucosa... ORPHA:234
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Generalized amyotrophy, Scoliosis, Myopathy, Dysphagia, Spinal rig... OMIM:618323
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Rhabdomyolysis, Giant cell hepatitis, Elevated hepatic transaminase... ORPHA:79095
Typical Nemaline Myopathy
High palate, Nemaline bodies, Flexion contracture, Nocturnal hypoventilation, Foot dorsiflexor we... ORPHA:171436
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Ptosis OMIM:300915
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Autoimmunity, Sinus tachycardia, Left bundle branch block,... ORPHA:563
Lysinuric Protein Intolerance
Oroticaciduria, Leukopenia, Hemophagocytosis, Skeletal muscle atrophy, Intraalveolar phospholipid... OMIM:222700
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hepatic steatosis, Flexion contracture, Bradycardia, Muscular dystrophy, Splenomegaly, Hep... OMIM:613327
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Amenorrhea, Purpura, Neutropenia, Anemia, Impotence, Cardiomyopath... OMIM:604250
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Avian Influenza
Hypoxemia, Tachypnea, Productive cough, Hepatitis, Thrombocytopenia, Lymphopenia, Conjunctivitis,... ORPHA:454836
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal atresia, ... OMIM:243150
Ck Syndrome
High palate, Scoliosis, Hyperlordosis, Kyphosis OMIM:300831
Pancreatic And Cerebellar Agenesis
Apnea, Anemia, Pancreatic hypoplasia, Secundum atrial septal defect OMIM:609069
Developmental Delay With Variable Neurologic And Brain Abnormalities
Upslanted palpebral fissure, Sparse lateral eyebrow, Cataract, Astigmatism, Knee flexion contract... OMIM:619694
Pauci-Immune Glomerulonephritis
Proteinuria, Scleritis, Macroscopic hematuria, Arteritis, Microscopic hematuria, Pancreatitis, Ab... ORPHA:93126
Autosomal Recessive Centronuclear Myopathy
High palate, Bifid uvula, Abnormal heart valve morphology, Scapular winging, Generalized amyotrop... ORPHA:169186
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Arrhythmia, Cough, Recurrent upper and lower respiratory tract... ORPHA:171876
Cataract 11, Multiple Types
Microphthalmia, Cataract OMIM:610623
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb... OMIM:616812