Gene Summary

thrombospondin 1
TSP1,  TSP-1,  Thbs-1,  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 1.97×10-05
increased circulating alanine transaminase level Thbs1tm1.1(KOMP)Vlcg HOM Early adult 1.69×10-05
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 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 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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 Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Hind Leg and Hip

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Forepaw

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
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Pulmonary infiltrat... OMIM:607685
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Abnormal esophagus morphology, Neutrop... ORPHA:1163
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia... OMIM:131400
Cystic Echinococcosis
Abnormality of the peritoneum, Jaundice, Abnormality of the diaphragm, Eosinophilia, Hepatic cyst... ORPHA:400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Cardiomegaly OMIM:227150
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Underdeveloped nasa... OMIM:616651
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Scoliosis, Macroglossia, Bronchiectasis, Recurrent otitis media, Thoracolumbar scoliosis, Keratit... OMIM:618523
Marburg Hemorrhagic Fever
Abnormal bleeding, Skin rash, Hematuria, Elevated hepatic transaminase, Gastrointestinal hemorrha... ORPHA:99826
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Pneumonia, Eosinophilia, Atopic dermatitis OMIM:617638
Rigid Spine Syndrome
Scoliosis, Abnormality on pulmonary function testing, Hyperlordosis, Hamstring contractures, Card... ORPHA:97244
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Neutropenia, Respiratory insufficiency, Cor triatriatum, Anemia, Leukopenia, Pulm... OMIM:612541
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Roifman Syndrome
Biconvex vertebral bodies, Noncompaction cardiomyopathy, Underdeveloped nasal alae, Recurrent oti... ORPHA:353298
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Eczema, Chronic mucocutaneous candidia... OMIM:618282
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Scoliosis, Skin rash, Eczematoid dermatitis, Recurrent sinopulmonary infections, Chronic mucocuta... OMIM:147060
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Cough, Budd-Chiari syndrome, Jaundice, De... ORPHA:284
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Cerebral vasculit... OMIM:243700
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Nasal polyposis, Cough, Respiratory insufficiency, Sinusitis, Myocarditis, ... ORPHA:183
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Recurrent sinopulmonar... ORPHA:486
Congenital Alveolar Capillary Dysplasia
Intestinal malrotation, Pulmonary arterial hypertension, Absent gallbladder, Duodenal stenosis, A... ORPHA:210122
Caroli Syndrome
Melena, Jaundice, Hypersplenism, Leukopenia, Cirrhosis, Intrahepatic cholestasis, Thrombocytopeni... ORPHA:480520
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media OMIM:608971
Legionnaires Disease
Hematuria, Pericarditis, Cough, Respiratory insufficiency, Jaundice, Myocarditis, Renal insuffici... ORPHA:549
Bronchogenic Cyst
Abnormal sputum, Abnormal stomach morphology, Cough, Dyspnea, Abnormal pleura morphology, Dysphag... ORPHA:2357
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Respiratory tract infection, Wheezing, Gastrointestinal obstruction, Respiratory distress, Dyspha... ORPHA:1549
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Ovoid vertebral bodies, Decreased proportion of naive C... ORPHA:1830
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Dyspnea, Elevated hepatic transaminase, Interstitial pneumonit... ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Flexion contracture, Corneal opacity, Dilated cardiomyopathy, Bradycardia... OMIM:618815
Meckel diverticulum, Situs inversus totalis, Abnormal heart morphology, Abnormal pulmonary situs ... ORPHA:1666
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Respiratory insufficiency, Pancreatitis, Kyphoscoliosis OMIM:618230
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, Pleural effusion, Lymph... OMIM:618935
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Cough, Vasculitis in the skin, Chronic hepatitis, Pulmonary embolism, An... ORPHA:3260
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Cardiorespiratory arrest, Leukocytosis, Pleural effusion, Cough, Hypote... ORPHA:188
Hypohidrosis, Acute kidney injury, Pericarditis, Chronic kidney disease, Abnormal large intestine... ORPHA:801
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Respiratory insufficiency due to muscle ... OMIM:300718
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Cystic Fibrosis
Bronchiectasis, Nasal polyposis, Hypercalciuria, Decreased forced expiratory flow 25-75%, Ileus, ... OMIM:219700
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Nemaline Myopathy 2
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Skeletal muscle atro... OMIM:256030
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreat... ORPHA:79312
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pectoris, Abnormal left ... ORPHA:3093
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Broad nasal tip, Hepatic cysts, Lymphopenia, Erythroderma, Prominent nose, Anal at... OMIM:617425
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Hypothyroidism, Pneumoni... ORPHA:39041
Microphthalmia, Isolated, With Coloboma 4
Orbital cyst, Microcornea, Microphthalmia OMIM:251505
Shwachman-Diamond Syndrome
Skin rash, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Sinus... ORPHA:811
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp... ORPHA:40
Myosclerosis, Autosomal Recessive
Restricted neck movement due to contractures, Decreased pulmonary function, Achilles tendon contr... OMIM:255600
Immunodeficiency 23
Scoliosis, Allergic rhinitis, Hemolytic anemia, Bronchiectasis, Lymphopenia, Vasculitis in the sk... OMIM:615816
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, He... OMIM:603554
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Hypothyroidism, Membranous nep... OMIM:618999
Stevens-Johnson Syndrome
Cough, Abnormality of the urethra, Anemia, Renal insufficiency, Abnormal myocardium morphology, A... ORPHA:36426
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Asthma, Leukopenia, Refractory anemia, Eczema, Bone marrow h... OMIM:616871
3-Methylglutaconic Aciduria, Type Viii
Cataract, Bradycardia, Neutropenia OMIM:617248
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Cataract, Ptosis, Ragged-red musc... OMIM:609286
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, Renal in... ORPHA:289916
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Chronic pulmonary obstruction, Bronchiectasis, Pulmonary fibros... OMIM:618986
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Hand muscle atroph... OMIM:600561
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Rena... ORPHA:27
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Igg4-Related Pachymeningitis
Abnormal lung morphology, Dyspnea, Low back pain, Dysphagia, Lymphadenitis, Lower limb muscle wea... ORPHA:449427
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Nemaline Myopathy 3
Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Dysph... OMIM:161800
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Abnormality of the gastrointest... ORPHA:2070
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, A... OMIM:619386
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pleuritis, Pericarditis, Cough, Respiratory insufficiency, Cerebral ischemi... ORPHA:900
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Toxic Epidermal Necrolysis
Cough, Neutropenia, Abnormality of the urethra, Anemia, Renal insufficiency, Abnormal myocardium ... ORPHA:537
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Choanal atresia, Cholestasis, Hepatic fibrosis, Hepatomegaly, He... OMIM:610199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture... OMIM:253700
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Gastrointestinal atresia, Ventricular septal defect, Autoimmune hemolytic ane... ORPHA:436252
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Maculopapular exanthema ORPHA:157991
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Recurrent skin infections, Micropenis OMIM:610680
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Histiocytosis, Pancreatic hypoplasia, Cardiomegaly, Pulmonary arterial hypertensio... OMIM:602782
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Autoimmune thrombocytopenia, Auto... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Microcytic anemia, Cholelithiasis, Respiratory insufficiency, Thrombocytopenia, Hepatomegaly, Hep... ORPHA:848
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Propionic Acidemia
Apnea, Neutropenia, Cerebellar hemorrhage, Pancytopenia, Thrombocytopenia, Hyperglycinuria, Hepat... OMIM:606054
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Neutropenia, Eosinophilia OMIM:257100
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, Distal low... OMIM:607088
Peritonitis, Skin rash, Pericarditis, Cough, Abnormal sperm morphology, Pneumonia, Vasospasm, Cer... ORPHA:228123
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia OMIM:614302
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Rimmed vacuoles, Skeletal muscle atrophy, Calf muscle hypertrophy, Redu... OMIM:617760
Cyclic Neutropenia
Peritonitis, Respiratory tract infection, Decreased eosinophil count, Tooth abscess, Lymphopenia,... ORPHA:2686
Microcephaly-Microcornea Syndrome, Seemanova Type
Upslanted palpebral fissure, Epicanthus, Cataract, Microcornea, Microphthalmia ORPHA:2528
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Decreased muscle mass, Dysphagia, Respiratory insufficiency due to musc... OMIM:603034
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Oligomenorrhea, Marked muscular hypertrophy, Hepatic steatosis, Skeletal muscle hypert... ORPHA:79083
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Abnormal a... ORPHA:577
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Hepatomegaly, Tubulointerstitial nephritis, Methylmaloni... OMIM:251000
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systoli... ORPHA:353
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Villous atrophy, Hyp... OMIM:304790
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Scapular winging, Flexion contracture, High palate, Ragged-red muscle f... OMIM:616228
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Decreased liver function, Skeletal muscle atrophy, Cardiomyopathy, Depressed n... ORPHA:26791
Cinca Syndrome
Skin rash, Leukocytosis, Uveitis, Anemia, Hepatosplenomegaly, Eosinophilia, Arthritis OMIM:607115
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Polysplenia, Pancreatic cysts, B... OMIM:208540
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Helicobacter pylori infection, Lymphopenia, Neutropenia, Recurrent ap... ORPHA:2688
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pleuritis, Interstitial pneu... ORPHA:449395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Cryptorchidism, Hyperlordosis, Macroglossia, Left ventricular systolic dysfunction, Co... OMIM:613156
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Jaundice, Cho... ORPHA:65682
Vernal Keratoconjunctivitis
Pruritus, Abnormal conjunctiva morphology, Punctate keratitis, Abnormal cornea morphology, Cornea... ORPHA:70476
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Bulbous nose, Decreased proportion of CD4-positive helper T cells, Mitral valve prolapse, Elbow f... ORPHA:508533
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Seborrheic dermatitis, Underdeveloped nasal alae, Pancr... ORPHA:83617
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Elevated hepatic transaminase, Recurrent upper and lower respiratory tract infections,... ORPHA:331206
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia, Prominent nose OMIM:618092
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Autosomal Dominant Hyper-Ige Syndrome
Scoliosis, Skin rash, Osteomyelitis, Cough, Chronic otitis media, Atelectasis, Wide nasal bridge,... ORPHA:2314
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Hematuria, Pulmonary embolism, Retinal telangiectasia, Cerebral hemo... ORPHA:774
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Cough, Metrorrhagia, Anemi... ORPHA:464329
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Respiratory insuff... OMIM:611067
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Sandhoff Disease
Kyphosis, Hepatomegaly, Congestive heart failure, Splenomegaly, Recurrent respiratory infections ORPHA:796
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, ... ORPHA:277
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lower limb muscle weakness, Respiratory insufficiency, Lumbar hyperlordosis, Type 1 mu... OMIM:619042
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increas... ORPHA:727
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Shoulder flexion contracture, Decreased muscle mass, Congenital finger ... ORPHA:536516
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Congenital foot contractures, Scapular winging, Arthrogryposis multiplex congenita, Lu... OMIM:602484
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia OMIM:602079
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Skeletal muscle hypertrophy, Polycystic ovaries, Hepatomegaly, Secondary ameno... ORPHA:2348
Exercise-Induced Malignant Hyperthermia
Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Rhabdomyolysis, T... ORPHA:466650
Schimke Immunoosseous Dysplasia
Platyspondyly, Bulbous nose, Focal segmental glomerulosclerosis, Thoracic kyphosis, Lymphopenia, ... OMIM:242900
Isolated Glycerol Kinase Deficiency
Scoliosis, Cryptorchidism, Hyperlordosis, Myopathy ORPHA:408
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Narrow palpebral fissure, Cataract, Decreased muscle mass, Bilateral microphthalmos OMIM:608763
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:616276
Peritonitis, Pericarditis, Cough, Neutropenia, Ileitis, Melena, Sinusitis, Myocarditis, Renal ins... ORPHA:73263
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis, Myopathy, Facial palsy, Hypogonadotropic hypogonadism OMIM:253320
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Cryptorchidism, Abnormal mitral valve morphology, Nephropathy, Hypertension, Anemi... ORPHA:1192
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Coronal cleft vertebrae, Stillbirth, Respiratory insufficiency, Lumbar ... OMIM:256050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, EMG: myopathic abnormalit... OMIM:606612
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Foot dorsiflexor weakness, Respiratory insufficiency due to muscle weakness OMIM:617087
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Otitis media, T... ORPHA:229717
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, High palate, Anteverted nares, Chronic bronchitis, Depressed nasal bridge OMIM:614069
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Myo... OMIM:253600
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Duodenal... OMIM:615710
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hypertension, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:79084
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, M... ORPHA:267
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Myopathy, Congenital, With Tremor
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Lumbar hyperlordo... OMIM:618524
Scoliosis, Macroglossia, Absent/hypoplastic coccyx, Vacuolated lymphocytes, Absent/hypoplastic pa... OMIM:230000
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Pulmonary edema, Pancreatitis, Shock, Abnor... ORPHA:70578
Ebola Hemorrhagic Fever
Skin rash, Gastrointestinal hemorrhage, Chemosis, Epistaxis, Thrombocytopenia, Cardiac arrest, Le... ORPHA:319218
Mucoepithelial Dysplasia, Hereditary
Hematuria, Fibrocystic lung disease, Cor pulmonale, Pneumonia, Melena, Rhinorrhea, Corneal neovas... OMIM:158310
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis, Hand muscle weakness, Congenital foot contraction deformities, Flexion contracture... ORPHA:363454
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Shock, Neutrophilia, Respiratory distress, Pleural empyema, Pulmona... ORPHA:36238
Cach Syndrome
Arthrogryposis multiplex congenita, Renal hypoplasia, Dysphagia, Flexion contracture, Primary ame... ORPHA:135
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatome... OMIM:600649
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Reduced sperm motility, Situs inversus totalis, B... OMIM:613807
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hypertension, Hepatomegaly, Jaundice, ... OMIM:603903
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Scapular winging, Proximal amyotrophy, Back pain, Myopathy, Muscle fiber splitting OMIM:618129
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Rat-Bite Fever
Skin rash, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Tendonitis, Back pain, Maculopapul... ORPHA:31205
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin... ORPHA:53035
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Hypereosinop... OMIM:617388
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis, Lower limb muscle weakness, Skeletal muscle atrophy, High palate OMIM:611225
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis OMIM:247800
Wiskott-Aldrich Syndrome
Decreased proportion of CD4-positive helper T cells, Melena, Eczema, Eosinophilia, Iron deficienc... OMIM:301000
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Exertional dyspnea, Multiple joint contractures, Myopathy, Limb-girdle muscle weak... ORPHA:352470
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Seborrheic dermatitis, Atrial septal defect, Horseshoe kidney, Shoulder musc... OMIM:274000
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Reduced musc... ORPHA:280333
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mor... ORPHA:2470
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Normocytic anemia, Throm... ORPHA:98849
Recurrent otitis media, Lumbar kyphosis in infancy, Lumbar hyperlordosis, Upper airway obstructio... OMIM:100800
Immunodeficiency 27A
Thrombocytosis, Pulmonary infiltrates, Increased inflammatory response, Leukocytosis, Salmonella ... OMIM:209950
Mccune-Albright Syndrome
Scoliosis, Elevated circulating growth hormone concentration, Increased circulating cortisol leve... ORPHA:562
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the optic nerve, Epicanthus, Hypoplasia of the thymus, Third degree atriove... ORPHA:40366
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin inf... ORPHA:217390
Skin rash, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Pneumonia, Thro... ORPHA:3392
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Primary Sclerosing Cholangitis
Thyroiditis, Jaundice, Palmar telangiectasia, Renal insufficiency, Cirrhosis, Uveitis, Acute hepa... ORPHA:171
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis OMIM:616394
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral morphology, Irregular verte... OMIM:618363
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Cryptorchidism, Hyperlordosis, Furrowed tongue, Hypogonadotropic hypogonadism, High pa... ORPHA:1387
Sleep apnea, Elevated hepatic transaminase, Cholelithiasis, Wide nasal bridge, Hepatomegaly, Uppe... ORPHA:3166
Avian Influenza
Acute kidney injury, Cough, Pneumonia, Leukopenia, Spontaneous abortion, Ground-glass opacificati... ORPHA:454836
Hereditary Folate Malabsorption
Glossitis, Megaloblastic anemia, Gastroesophageal reflux, Cheilitis, Pancytopenia, Thrombocytopen... ORPHA:90045
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Congenital hypothyroidism, Pancreatic hypoplasia, Pulmonary artery stenos... ORPHA:2255
Primary Lipodystrophy
Cirrhosis, Angina pectoris, Hepatic steatosis, Skeletal muscle hypertrophy, Menometrorrhagia, Pol... ORPHA:90970
Eosinophilic Fasciitis
Muscular edema, Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Arthritis ORPHA:3165
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, Congenital muscular dystr... OMIM:607155
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, Bulbous nose, Broad nasal tip, Thoracic kyphosis, High palate, Lumbar kyph... ORPHA:3041
Peritonitis, Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, ... ORPHA:228119
Glycogen Storage Disease Vii
Increased muscle glycogen content, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-dip... OMIM:232800
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Spinal rigidity, Respiratory insufficiency OMIM:617404
Pentalogy Of Cantrell
Scoliosis, Atrial septal defect, Ventricular septal defect, Polysplenia, Abnormal pericardium mor... ORPHA:1335
Behçet Disease
Pleuritis, Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Pulmonary embolism, Cerebral... ORPHA:117
Immunodeficiency 49
Lymphopenia, Inflammatory abnormality of the skin, Eosinophilia, Pulmonary artery stenosis OMIM:617237
Idiopathic Achalasia
Wheezing, Dysphagia, Cough, Gastroesophageal reflux, Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Candidiasis, Familial, 2
Hypereosinophilia, Chronic oral candidiasis OMIM:212050
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Primary adr... OMIM:240300
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary artery stenosis, Congenital ... OMIM:600001
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Dark urine, Chole... ORPHA:521219
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Elevated hepatic transaminase, Hepatic steatosis, Muscular dystrophy, Limb-girdle ... ORPHA:369840
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Scoliosis, Biconcave vertebral bodies, Hepatic steatosis, High palate, Myocardial infarction, Pan... OMIM:236200
Igg4-Related Ophthalmic Disease
Prostatitis, Abnormality of the sphenoid sinus, Enlarged lacrimal glands, Sialadenitis, Abnormal ... ORPHA:449563
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Dyspnea, Respiratory distress, Cough, Muscular dystrophy, Centrally nucleated skeletal... ORPHA:86812
Familial Mediterranean Fever
Peritonitis, Skin rash, Pleuritis, Pericarditis, Erysipelas, Osteoarthritis, Gastrointestinal inf... ORPHA:342
Ck Syndrome
Scoliosis, Hyperlordosis, Kyphosis, High palate, Prominent nasal bridge OMIM:300831
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Female... ORPHA:244
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Erythroderma, Recurrent pneumonia, Eosinophilia OMIM:610163
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Igg4-Related Aortitis
Increased inflammatory response, Low back pain, Hypereosinophilia, Hydronephrosis, Asthma, Intest... ORPHA:449400
Hemochromatosis, Type 1
Osteoporosis, Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transamin... OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Elevated... OMIM:617713
Cohen Syndrome
Facial hypotonia, Neutropenia, Laryngomalacia, Lumbar hyperlordosis, Leukopenia, Mitral valve pro... OMIM:216550
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Left ventricular hypertrophy OMIM:619048
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis, Anal atresia ORPHA:2310
Netherton Syndrome
Allergic rhinitis, Erythroderma, Villous atrophy, Hypereosinophilia, Asthma, Abnormal intestine m... OMIM:256500
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Jaundice, Hypersplenism, Renal insufficiency, Fat malabsorption, Enlarged ki... ORPHA:731
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholecystitis, Kyphosis, Cholelithiasis, Normocytic a... OMIM:615512
Infection-Related Hemolytic Uremic Syndrome
Pleuritis, Acute kidney injury, Pneumonia, Myocarditis, Decreased urine output, Anuria, Gastroint... ORPHA:544482
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Arrhythmia, Flexion contracture, Respiratory insufficiency, Spinal rigidity, Conge... ORPHA:157973
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Thyroiditis, Anemia, Enlarged kidney, Epistaxis, Polycystic ovaries, Nephrolithiasis, Abnormal bl... ORPHA:79259
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Eosinophilia OMIM:610247
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Pneumonia, Pancytopenia, Decreased proportion of class-switched memo... OMIM:614700
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Anteverted nares, Wide nasal bridge, Spina bifida occulta, Cleft palate... ORPHA:1797
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Corneal scarring, Tachycardia, Hyperhidrosis, Bradycardia OMIM:614653
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Scapular winging, Spinal muscular atrophy, Achilles tendon contracture, Knee flexi... OMIM:615290
Perlman Syndrome
Cryptorchidism, Short nose, Wide nasal bridge, Hepatomegaly, Hypoplasia of penis, Abnormal pancre... ORPHA:2849
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Vasculitis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatom... OMIM:308240
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Urinary bladder sphincter dysfunction, EMG: myopathic abnormalities, Abnormality o... ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Flexion contracture, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Myotonic Dystrophy 1
Respiratory distress, Dysphagia, Atrial flutter, Atrial fibrillation, Cholelithiasis, Testicular ... OMIM:160900
Gm1 Gangliosidosis
Scoliosis, Cardiomyopathy, Depressed nasal bridge, Hyperlordosis, Macroglossia, Gastroesophageal ... ORPHA:354
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thoracic kyphosis, Tricuspid regurgitation, Anemia, Leukopenia, Patent foramen ovale, Pulmonary a... ORPHA:505248
Peutz-Jeghers Syndrome
Nasal polyposis, Anemia, Multiple renal cysts, Gastrointestinal infarctions, Abnormality of the g... ORPHA:2869
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Recurrent sinusitis, Recurrent... OMIM:612444
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Scapular winging, Kyphosis, Flexion contr... OMIM:255200
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, High palate, Apnea OMIM:614198
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Portal hyperten... OMIM:263200
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Secundum atr... OMIM:156810
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Macroglossia, Bradycardia ORPHA:95717
Bronchiectasis, Cough, Maculopapular exanthema, Hypercalciuria, Decreased liver function, Anemia,... ORPHA:797
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1354
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Scoliosis, Pancytopenia, Anemia, Pulmonary arterial hypertension, Pulmonary fibrosis, Thrombocyto... ORPHA:2072
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Norm... OMIM:611881
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Gastrointestinal stroma tumor, Hemolytic an... ORPHA:1572
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Decreased liver function, Eczema ORPHA:79278
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Short neck, Elbow flexio... ORPHA:98863
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal bilia... ORPHA:3032
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Macrovesicular hepatic steatosis, Hepatomegaly, Congestive heart failure, My... OMIM:618234
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Dyspnea, Coronary arter... ORPHA:565612
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, B... ORPHA:542306
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:98853
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Kyphosis, Tetralogy of Fallot, Hypoplasia of th... ORPHA:93315
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Congenital Multicore Myopathy With External Ophthalmoplegia
Scoliosis, Cryptorchidism, Abnormal respiratory system physiology, Muscular dystrophy, Pneumonia,... ORPHA:98905
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Dysphagia, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Resp... OMIM:255310
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Neutropenia, Pneumonia, Narrow nose, T lymphocytopenia, Autoimmune thrombocytopenia, P... OMIM:607944
Peripheral Primitive Neuroectodermal Tumor
Abnormal bleeding, Ovarian neoplasm, Back pain, Lower limb muscle weakness, Abnormal thoracic spi... ORPHA:370348
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Gaucher Disease Type 1
Cirrhosis, Hematuria, Kyphosis, Pericardial effusion, Pulmonary arterial hypertension, Biliary tr... ORPHA:77259
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Peripheral pulmonary artery stenosis, Short neck, Mic... ORPHA:264450
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Restrictive ventilatory defect, Recurrent upper respirat... OMIM:253000
Congenital Analbuminemia
Increased circulating antibody level, Low pulse pressure ORPHA:86816
Familial Anetoderma
Lumbar hyperlordosis, High, narrow palate ORPHA:228277
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Abnormality iris morphology, Cataract, Microphthalmia, Downslanted palpe... ORPHA:1617
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Impaired lymphocyte transformation with p... OMIM:300400
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Bulbous nose, Kyphosis, Sacral dimple, Wide nasal bridge, Hypospadias, ... OMIM:615761
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Cardiogenic shock, Reduced... ORPHA:563
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:98855
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... OMIM:609223
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Atrioventricular block, Long eyebrows, Bradycardia OMIM:614407
8P Inverted Duplication/Deletion Syndrome
Scoliosis, Cryptorchidism, Small hypothenar eminence, Anteverted nares, Abnormal heart morphology... ORPHA:96092
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Kyphosis, Increased endomysial con... ORPHA:178148
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Scapular winging, Muscular dystrophy, Achilles tendon contracture, Calf muscle pse... ORPHA:62
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Decreased circulating T4 level, Positive perch... ORPHA:95716
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Hypergonadotropic hypogonadism, Kyphosis, Polycystic ovaries, Seco... ORPHA:3085
Malignant Atrophic Papulosis
Constrictive pericarditis, Abnormal conjunctiva morphology, Gastrointestinal hemorrhage OMIM:602248
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Iridocyclitis, Oligomenorrhea, Dysphagia, Hypothyroidism, Distal amyotrophy, Pancrea... ORPHA:412057
Timothy Syndrome
Hypothyroidism, Patent ductus arteriosus, Pneumonia, Prolonged QT interval, Bradycardia OMIM:601005
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Abnormal testis morphology, Kyphosis, Aplasia/Hypoplasia of the lungs, Hypospadias, Re... ORPHA:1548
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Ptosis, Microphthalmia ORPHA:1473
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Monosomy 18P
Autoimmunity, Hypothyroidism, Webbed neck, Epicanthus, Hypertension, Ptosis, Microphthalmia ORPHA:1598
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Neutropen... ORPHA:238459
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabso... ORPHA:309108
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Central sleep apnea, Renal tubular acidosis, Aspiration pneumonia, Pancreatitis, Organic aciduria ORPHA:431361
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphopenia, Dec... OMIM:615518
Protoporphyria, Erythropoietic, 1
Hepatic failure, Eczema, Hemolytic anemia, Cholelithiasis OMIM:177000
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Late-Onset Isolated Acth Deficiency
Graves disease, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension, Hyp... ORPHA:199299
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Abnormal heart morphol... ORPHA:139507
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Short neck, Abnormal vertebral morphology, Central verte... ORPHA:93352
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated circulatin... OMIM:255120
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cartilage-Hair Hypoplasia
Scoliosis, Neutropenia, Respiratory insufficiency, Anemia, Short neck, Cardiomyopathy, Depressed ... ORPHA:175
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Flexion contracture, Bradycardia OMIM:614498
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis, Male urethral meatus stenos... ORPHA:464738
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Restrictive ventilatory defect, Recurrent upper respirat... OMIM:253010
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis, Microscopic hematuria, Myopathy, Proteinuria ORPHA:79087
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Recurrent otitis media, Lower li... OMIM:169400
Pauci-Immune Glomerulonephritis
Acute kidney injury, Cough, Glomerular sclerosis, Macroscopic hematuria, Abnormality of the pulmo... ORPHA:93126
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation, Lower limb muscle ... ORPHA:90117
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Microphthalmia, Hypoplasia of the fovea OMIM:609218
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Short nose, Bronchiectasis, Pneumonia, Reduced natural killer ce... OMIM:242860
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Lower limb muscle weakness, Pancreatitis OMIM:606721
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Short nose, Kyphosis, Anemia, High palate, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Acute kidn... ORPHA:90038
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Jansen-De Vries Syndrome
Hyperlordosis, Gastroesophageal reflux, Anteverted nares OMIM:617450
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroel... OMIM:212140
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Thoracic kyphoscoliosis, Hypothyroidism, Camptodactyly, Gastroesophag... OMIM:613385
Hyperlordosis, Narrow palate, Abnormality of the vertebral column, Abnormal vertebral morphology,... ORPHA:763
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Acute leukemia... ORPHA:906
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Ankyloblepharon, Microphthalmia, Anophthalmia ORPHA:85275
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Amenorrhea, Purpura, Lymphopenia, Impotence, Neutropeni... OMIM:604250
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Dysphagia, Kyphosis, Flexion contracture, Spinal rigidity, Generalized amyotrophy, Myo... OMIM:618323
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Multicystic ki... OMIM:267010
Subaortic Stenosis-Short Stature Syndrome
Scoliosis, Abnormal vocal cord morphology, Arrhythmia, Membranous subvalvular aortic stenosis, Ky... ORPHA:3191
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacifi... ORPHA:2334
Neonatal Alloimmune Neutropenia
Jaundice, Spontaneous abortion, Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Bruising su... ORPHA:3226
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Myocarditis, Sinusitis, Myositis, Shock, Renal insufficiency, ... ORPHA:36234
Ck Syndrome
Lumbar hyperlordosis, High palate, Prominent nasal bridge, Kyphoscoliosis ORPHA:251383
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tachycardia, Atrioventricular... OMIM:212138
Infant Acute Respiratory Distress Syndrome
Hypotension, Pneumonia, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract, Ptosis, Microphthalmia OMIM:120433
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Arthralgia/arthritis, Decreased pulmon... ORPHA:449280
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Dermatopathia Pigmentosa Reticularis
Hypohidrosis, Abnormal conjunctiva morphology OMIM:125595
Trichohepatoneurodevelopmental Syndrome
Scoliosis, Macroglossia, Central sleep apnea, Bulbous nose, Gastroesophageal reflux, Cholelithias... OMIM:618268
Whim Syndrome
Recurrent pneumonia, Respiratory tract infection, Severe periodontitis, Bronchiectasis, Recurrent... ORPHA:51636
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Abnormality of facial musculature, Abnormality of masseter muscle... ORPHA:98897
Lysinuric Protein Intolerance
Hemophagocytosis, Pulmonary hemorrhage, Intraalveolar phospholipid accumulation, Aminoaciduria, R... OMIM:222700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Microcornea, Microphthalmia OMIM:616171
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio, Asthma, Splenomegaly, Eczema OMIM:607271
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion of CD4-po... OMIM:300853
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Pneumonia, Multicysti... OMIM:300209
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, ... OMIM:615500
Lipodystrophy, Congenital Generalized, Type 4
Scoliosis, Hyperlordosis, Elevated hepatic transaminase, Hepatic steatosis, Dysphagia, Muscular d... OMIM:613327
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Cholelithiasis, Wide nasal bridge, Double ou... OMIM:614886
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal mu... ORPHA:169186
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Typical Nemaline Myopathy
Scoliosis, Hyperlordosis, Limb-girdle muscle weakness, Arthrogryposis multiplex congenita, Facial... ORPHA:171436
Generalized Pseudohypoaldosteronism Type 1
Pustule, Wheezing, Arrhythmia, Atopic dermatitis, Recurrent upper and lower respiratory tract inf... ORPHA:171876
Incontinentia Pigmenti
Breast hypoplasia, Leukocytosis, Uveitis, Breast aplasia, Hemivertebrae, Hypoplastic nipples, Ker... OMIM:308300
Mirage Syndrome</