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Gene: Fam221a MGI:2442161

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Gene Summary

Name:
family with sequence similarity 221, member A
Synonyms:
D330028D13Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Fam221aem1(IMPC)Ccpcz HOM Early adult 1.02×10-05
increased airway resistance Fam221aem1(IMPC)Ccpcz HOM Early adult 1.00×10-06
kyphosis Fam221aem1(IMPC)Ccpcz HOM   Early adult 3.04×10-05
abnormal heart morphology Fam221aem1(IMPC)Ccpcz HOM Early adult 0.00
small testis Fam221aem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Fam221aem1(IMPC)Ccpcz HOM Early adult 0.00
increased erythrocyte cell number Fam221aem1(IMPC)Ccpcz HOM   Early adult 6.54×10-05
increased circulating total protein level Fam221aem1(IMPC)Ccpcz HOM Early adult 1.62×10-08
abnormal eye morphology Fam221aem1(IMPC)Ccpcz HOM Early adult 0.00
increased hematocrit Fam221aem1(IMPC)Ccpcz HOM   Early adult 6.20×10-05
abnormal lymph node morphology Fam221aem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating glucose level Fam221aem1(IMPC)Ccpcz HOM Early adult 4.06×10-05
abnormal testis morphology Fam221aem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Fam221aem1(IMPC)Ccpcz HOM   Early adult 5.71×10-05
enlarged heart Fam221aem1(IMPC)Ccpcz HOM Early adult 0.00
increased CD8-positive, naive alpha-beta T cell number Fam221aem1(IMPC)Ccpcz HOM Early adult 6.59×10-06

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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XRay Images Forepaw

16 Images

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Human diseases caused by Fam221a 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 Fam221a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, Plasmacytosis, Cough ORPHA:60026
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circu... ORPHA:158048
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Dyspnea, Splenomegaly, Increased mean corpuscular hemogl... ORPHA:90041
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Pleu... ORPHA:29073
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp... OMIM:263400
Poems Syndrome
Diabetes mellitus, Thrombocytosis, Polycythemia, Respiratory insufficiency due to muscle weakness... ORPHA:2905
Acute Interstitial Pneumonia
Crackles, Elevated circulating C-reactive protein concentration, Pericardial effusion, Nonproduct... ORPHA:79126
Squamous Cell Carcinoma Of The Esophagus
Cough, Lymphadenopathy ORPHA:99977
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum... OMIM:617585
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Tempi Syndrome
Hypoxemia, Transudative pleural effusion, Increased hematocrit, Polycythemia ORPHA:284227
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferriti... OMIM:603552
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... OMIM:619126
Immunodeficiency 104
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangi... ORPHA:90362
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di... OMIM:615895
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph no... OMIM:209950
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Throm... OMIM:226300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, I... OMIM:603553
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Lymphadenopathy, Hyperproteinemia, Cough, Pleur... ORPHA:509
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Pseudo-Torch Syndrome 3
Apnea, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, R... OMIM:618886
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Immunodeficiency 43
Lung abscess, Bronchiectasis, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, ... OMIM:241600
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia,... OMIM:237800
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia, Abnormalit... OMIM:307500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Short neck, Thyroid lymphangiectasia, Splenomegaly, Panc... OMIM:235255
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Pancreatic lymphangiectasis, C... ORPHA:1655
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Abnormal vagina morphology, Ab... ORPHA:2315
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... OMIM:150550
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Short neck, Microcytic anemia, Asthma, Rec... OMIM:619750
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita... OMIM:602450
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Dengue Fever
Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoproteinemia, Ventricular septal defect, Pneumonia, Episod... ORPHA:26793
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Res... OMIM:617404
Sandhoff Disease
Splenomegaly, Kyphosis, Hepatomegaly ORPHA:796
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Incr... OMIM:618982
Adenocarcinoma Of The Esophagus
Cough, Lymphadenopathy ORPHA:99976
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Epistaxis, Peric... ORPHA:167
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia ORPHA:100025
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of... ORPHA:543
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Congenital Myopathy 8
Reduced vital capacity, Respiratory insufficiency, Scoliosis, Cardiomegaly OMIM:618654
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph... OMIM:612840
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Tularemia
Respiratory distress, Brain abscess, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cervi... ORPHA:3392
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Epistaxis, Elevated circulating C-reactive protein concentration,... OMIM:614034
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal form of the vertebral bodies,... ORPHA:1354
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... ORPHA:98826
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Re... OMIM:620282
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Dyspnea, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun... OMIM:613179
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Adrenocorticotropic hormo... OMIM:609981
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... OMIM:607594
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis OMIM:617087
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism, Apnea, Respiratory insufficiency OMIM:608093
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, Splenomegaly, Poiki... OMIM:615631
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Graves disease, Abnormal circ... ORPHA:542643
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cryptorchidism, Hypoplasia of the prostate, Scoliosis, Delayed puberty, Micropenis, Sch... OMIM:301900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Ab... ORPHA:99886
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... ORPHA:1302
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor... OMIM:616689
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Abnormally low T cell receptor excision circle level, Decreased proportion of naive... ORPHA:276
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Bethlem Myopathy 2
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis OMIM:616471
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Roifman Syndrome
Hepatomegaly, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular septal defect,... OMIM:616651
Caspase 8 Deficiency
Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:607271
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Pneumonia, Hepatomegaly OMIM:269840
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... OMIM:615084
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Splenomegaly, Decreased circulating ... ORPHA:309854
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Ogden Syndrome
Apnea, Bicuspid aortic valve, Maternal diabetes, Short neck, Cardiomegaly, Secundum atrial septal... OMIM:300855
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... OMIM:618495
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:607115
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Second... ORPHA:3085
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T lymphocytopenia, B lymph... ORPHA:277
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8... ORPHA:911
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Lymphadenopa... ORPHA:50251
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Respiratory insufficiency, Scoliosis ORPHA:178148
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophi... ORPHA:353298
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Elevated circulat... OMIM:300280
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Cryptorchidism, Kyphosis, Restrictive ventilatory defect, Abnormal circulating cr... OMIM:618484
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis OMIM:600175
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarction, Leukocytosis, Hyp... OMIM:603903
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Cryptorchidism, Respirato... OMIM:611890
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Abnormal testis morphology, Hypospadias, Scoliosis ORPHA:1548
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... ORPHA:319487
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... ORPHA:465508
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Absence of lymph node g... OMIM:608184
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus, Neutr... ORPHA:36238
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Recurrent pneu... OMIM:619644
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, E... ORPHA:352447
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... ORPHA:829
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Follicular Lymphoma
Splenomegaly, Pleural effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Aregenerative Anemia
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... ORPHA:101096
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... ORPHA:397596
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neut... ORPHA:79477
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Abcd Syndrome
Polycythemia OMIM:600501
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Cough, Atrial septal ... OMIM:619991
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... ORPHA:99931
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Kyphosis, Short neck OMIM:618393
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... OMIM:618204
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Anemia ORPHA:69077
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Restrictive ventilat... OMIM:615290
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Increased serum serotonin ORPHA:85288
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Spinal canal stenosis, Hypertrophic ... ORPHA:85451
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Atrial septal defect, Apnea, External ... ORPHA:79330
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Cholelithiasis, Anemia of inadequate production, Reticulocytosis OMIM:224100
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... OMIM:212140
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... ORPHA:247585
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... OMIM:618935
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian... ORPHA:83469
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Cryptorchidism OMIM:618512
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Pneumonia, Chronic neutro... OMIM:614700
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... ORPHA:824
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Reduced forc... OMIM:607155
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Respiratory insufficiency, Membranous subvalvular aortic stenosis, Type II ... ORPHA:3191
Castleman Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... ORPHA:160
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... ORPHA:39041
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Hypoalbuminemia, Scoliosis ORPHA:79327
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Anemia, Sclerotic vertebral endplates, Thrombocytopenia OMIM:611490
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Decreased HDL cholesterol concentration, Primary testicular failu... ORPHA:85450
Felty Syndrome
Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Lymph... ORPHA:47612
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Agammaglobulinemia, X-Linked
Wheezing, Recurrent pneumonia, Epididymitis, Bronchiectasis, Cor pulmonale, Lymph node hypoplasia... OMIM:300755
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Kyphosis, Pericardial effusion, Abnormal... ORPHA:77259
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Polycythemia, Elevated circulating alpha-f... ORPHA:116
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, A... ORPHA:99812
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ... OMIM:615122
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy... OMIM:222300
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Sialidosis Type 2
Dyspnea, Splenomegaly, Kyphosis, Hepatomegaly ORPHA:87876
Von Hippel-Lindau Disease
Back pain, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic ... ORPHA:892
Necrotizing Enterocolitis
Hyponatremia, Apnea, Leukocytosis, Abnormal heart morphology, Abnormal glucose homeostasis, Neutr... ORPHA:391673
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Lymphadenopathy, Coombs-positive hem... OMIM:304790
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Spondylometaphyseal Dysplasia, X-Linked
Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Platyspondyly, Respiratory failure OMIM:313420
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia OMIM:618856
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert... OMIM:252920
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:391
Cdkl5-Deficiency Disorder
Kyphosis, Abnormal respiratory system physiology, Scoliosis ORPHA:505652
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis, Atrial septal defect ORPHA:352490
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Hyperalaninem... OMIM:614702
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... ORPHA:436159
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Kyphosis, Scoliosis, Abnormality of the cervical spine ORPHA:48431
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Epistaxis, Productive cough, Thrombocytopenia, Leukocytosis, Lymphade... ORPHA:520
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... OMIM:235700
Fumarase Deficiency
Mitochondrial swelling, Polycythemia, Perimembranous ventricular septal defect, Hyperbilirubinemia OMIM:606812
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... OMIM:262190
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Splenomegaly, Kyphosis, Dilated cardio... OMIM:230500
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:602782
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis,... ORPHA:2686
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc... ORPHA:514
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,... ORPHA:98850
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Rh Deficiency Syndrome
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Tachypnea, Spherocytosis, Hep... ORPHA:71275
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... OMIM:618048
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Kyphosis, Cryptorchidism, Insulin resistan... OMIM:615381
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Kyphoscoliosis... OMIM:610377
Winchester Syndrome
Kyphosis OMIM:277950
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia, Cholelithiasis OMIM:182900
Alpha-Mannosidosis
Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Type II diabetes mellitus, Scoliosis ORPHA:61
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve... OMIM:252605
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido... ORPHA:97285
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervert... OMIM:607944
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte... ORPHA:2522
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Dyspnea, Asthma, Wheezing, Bronchiectasis, R... OMIM:620233
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ... ORPHA:381
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Apnea, Scoliosis, Cryptorchidism OMIM:619797
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Congenital Muscular Dystrophy, Ullrich Type
Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphosis, Respir... ORPHA:75840
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis... OMIM:185000
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy OMIM:618237
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... ORPHA:324410
Timothy Syndrome
Ventricular septal defect, Pneumonia, Hypoglycemia, Cardiomegaly, Hypothyroidism, Hypocalcemia, P... OMIM:601005
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hyperglycemia, Hypospadias, Abnormal heart morphology OMIM:175700
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi... OMIM:619281
Triosephosphate Isomerase Deficiency
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory insuffi... OMIM:615512
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Respiratory insufficiency, Lymphadenopathy... ORPHA:549
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
H Syndrome
Histiocytosis, Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Bronchiectasis, Lympha... ORPHA:168569
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increa... OMIM:194380
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Dyspnea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromboc... ORPHA:54057
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypertrophic cardiomyopathy, Scoliosis, Hepatomegaly OMIM:618234
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyp... ORPHA:42
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Cryptorchidism, Shawl scrotum, Micropenis, Decreased testicular size OMIM:615433
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hepatosplenomegaly, Abnormal cardiac se... OMIM:608776
Myofibrillar Myopathy 10
Left ventricular hypertrophy, Kyphosis, Elevated circulating creatine kinase concentration OMIM:619040
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Dyspnea, Lymph... ORPHA:36412
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... OMIM:201475
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lymphatic Filariasis
Orchitis, Lymphadenitis, Wheezing, Abnormality of the lymphatic system, Epididymitis, Vaginal hyd... ORPHA:2035
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferriti... ORPHA:540
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 54
Primary amenorrhea, Hyperglycemia, Hypergonadotropic hypogonadism, Scoliosis OMIM:619737
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Anaplastic thy... ORPHA:142
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension OMIM:619064
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Pulmonic stenosis, Atrioventricula... OMIM:619123
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... ORPHA:822
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnor... ORPHA:2311
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... OMIM:210250
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... OMIM:616100
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respiratory failure, Thrombocytopenia ORPHA:83313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Re... OMIM:606612
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Cardiomyopathy, Cough ORPHA:3386
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Mediastinal lymphadenopathy, Dyspnea... ORPHA:169105
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Sinusitis, Thrombocytosis, Pneumonia, Lymphocytic interstitial pneumonia,... ORPHA:2968
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Cryptorchidism ORPHA:2617
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Scoliosis, Cardiomegaly ORPHA:3137
Mcdonough Syndrome
Kyphosis, Scoliosis, Cryptorchidism ORPHA:2471
Relapsing Fever
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocytopenia,... ORPHA:91547
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, ... ORPHA:37042
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Scrub Typhus
Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Restrictive ventilatory defect, Cough ORPHA:83317
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect OMIM:612527
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... OMIM:239850
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Dyspnea, Myocarditis, Thyroiditis, Lymphadenopathy, Interstitial pneumonitis, Lymph... ORPHA:139402
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Cardiomegaly, Hyperammonemia, Pulmonary arterial hypert... OMIM:619051
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm... OMIM:214500
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,... OMIM:253000
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Lymphocytosis, Myeloprolifera... ORPHA:79456
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Leukocytosis, Tachypnea, Hyperammonemia, Hyperuricemia, Cough, Thromb... ORPHA:134
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Sinusitis, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, L... OMIM:617591
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Anemia ORPHA:3344
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia OMIM:608600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Mucopolysaccharidosis Type 6
Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyp... ORPHA:583
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis OMIM:615761
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Alstrom Syndrome
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... OMIM:203800
Ruvalcaba Syndrome
Kyphosis, Delayed puberty, Scoliosis, Cryptorchidism OMIM:180870
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Mixed Connective Tissue Disease
Hepatomegaly, Pericarditis, Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea,... ORPHA:809
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Congenital Tracheomalacia
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... ORPHA:95430
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating... OMIM:608836
Diastrophic Dysplasia
Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Respiratory insufficiency, Scoli... ORPHA:628
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Tachypnea, Paratra... OMIM:615934
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:615688
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protei... OMIM:612852
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Kyphosis, Cryptorchidism, Hypogonadism, Delayed puberty, Micropenis, Decreased testi... OMIM:300354
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea ORPHA:615
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... ORPHA:555874
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordosi... ORPHA:98863
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial s... OMIM:306955
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Per... ORPHA:781
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98853
Clark-Baraitser syndrome
Macroorchidism, Kyphosis, Scoliosis OMIM:300602
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Cardiomegaly, Tachypnea, Pulmonary arterial hypertension, Dysplastic sacrum, Severe p... OMIM:613320
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, L... ORPHA:1304
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Recurrent sinusit... ORPHA:98813
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Asthma, Pulmonary carcinoid tumor, Bronchospasm, Small int... ORPHA:100093
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Hypoplasia ... OMIM:305400
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentration, Kyphoscoliosis, Cardiomeg... ORPHA:14
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ventricular septal defect, Short neck, Cardiomegaly, Micropenis, Hypertrophic cardio... OMIM:616897
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism,... ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Premature ovarian insufficiency, Scoliosis OMIM:618124
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl... OMIM:617022
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... ORPHA:97287
Srd5A3-Cdg
Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... ORPHA:324737
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... ORPHA:96182
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Reduction of neutrophil motility OMIM:266265
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
3C Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Adrenal hypoplasia, Short neck, Abno... ORPHA:7
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden... ORPHA:1572
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Dyspnea, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Pl... ORPHA:93552
Genitopalatocardiac Syndrome
Hypospadias, Kyphosis, Cryptorchidism, Male pseudohermaphroditism, Abnormal cardiac septum morpho... ORPHA:2075
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Ullrich Congenital Muscular Dystrophy 1
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory insuffic... OMIM:254090
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Abno... ORPHA:32960
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Kyphosis, Cryptorchidism, Abn... ORPHA:94065
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad... ORPHA:91359
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... ORPHA:171436
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Marburg Hemorrhagic Fever
Back pain, Reticulocytosis, Pericarditis, Lymphopenia, Hypoglycemia, Elevated circulating creatin... ORPHA:99826
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Secundum atrial septal defect, Kyphosis, Cryptorchidism, Scoliosis, Leukemi... OMIM:619951
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Cryptorchidism, Reduced alpha/b... OMIM:301040
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
19P13.12 Microdeletion Syndrome
Hypospadias, Ventricular septal defect, Short neck, Precocious puberty, Kyphosis, Cryptorchidism,... ORPHA:254346
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpu... ORPHA:261250
Myopathy, Centronuclear, 2
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... OMIM:253220
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short neck, Cryptorchidism, Kyphosis, Hypogonadism ORPHA:3409
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Thyroiditis, ... ORPHA:83471
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Apnea, Hypoglycemia, Secundum atrial septal defect, Hyperglycemia, Pancreatic ... OMIM:609069
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Short neck, Splenomegaly, Asthma, Kyphosis, Recurr... OMIM:309900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Spinal rigid... ORPHA:98855
Gm1 Gangliosidosis
Ventricular septal defect, Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of the vertebral ... ORPHA:354
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ... OMIM:115197
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Pseudomyxoma Peritonei
Respiratory insufficiency, Lymphadenopathy ORPHA:26790
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Dyspnea, Hemothorax, Lymphadenopathy, Hypoxemi... ORPHA:199241
Arthrogryposis, Distal, Type 5
Reduced forced expiratory volume in one second, Kyphosis, Restrictive ventilatory defect, Scolios... OMIM:108145
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Platyspondyly, Atrial ... ORPHA:2655
Sialidosis Type 1
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Infertility, Scoliosis OMIM:614409
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elevated circulating creatine kinase concentration OMIM:618138
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Lym... ORPHA:331235
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Scoliosis, Abnormal pattern of respiration ORPHA:3095
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... OMIM:608013
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Schaaf-Yang Syndrome
Kyphosis, Cryptorchidism, Hypogonadism, Scoliosis, Micropenis OMIM:615547
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Kyphosis, Scoliosis, Pulmonary arterial hypertension OMIM:607015
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Mildly elevated creatine kinase ORPHA:536516
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia, Cardiomegaly ORPHA:391428
Noonan Syndrome 14
Short neck, Cryptorchidism, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic card... OMIM:619745
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Elevated ... ORPHA:308552
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophils, Splenomegaly, Respiratory... ORPHA:33226
Emanuel Syndrome
Sacral dimple, Truncus arteriosus, Ventricular septal defect, Kyphosis, Cryptorchidism, Aortic va... OMIM:609029
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recurrent pneumo... OMIM:617718
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... OMIM:246200
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Kyphosis, Primary adrenal insufficiency, Type II diabetes melli... ORPHA:2047
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne... OMIM:619418
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi... ORPHA:258
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis OMIM:617143
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233710
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Cowden Syndrome 1
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Scolio... OMIM:158350
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Hypogonadism, Spina bifida occulta ORPHA:2983
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Adrenocortical adenoma, Respiratory paralysis, Postprandial hyperglycemia, ... ORPHA:681
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Trisomy 13
Ventricular septal defect, Kyphosis, Cryptorchidism, Scoliosis, Atrial septal defect, Displacemen... ORPHA:3378
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse ORPHA:137834
Becker Nevus Syndrome
Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ... ORPHA:64755
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... ORPHA:1930
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:228308
Thanatophoric Dysplasia Type 2
Atrial septal defect, Kyphosis, Platyspondyly, Respiratory insufficiency ORPHA:93274
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Kyphosis, Cryptorchidism, Abnormal heart morphology, Scoliosis ORPHA:404440
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Neonatal respiratory distress, Decreased hemoglobin concentration, Cryptorchidism, ... OMIM:619005
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233690
Rhizomelic Syndrome, Urbach Type
Kyphosis, Pulmonic stenosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... OMIM:614921
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Premature pubarche, Small scrotum, External genital hypoplasia, Precocious ... ORPHA:398069
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Hypothyroidism ORPHA:349
Marinesco-Sjogren Syndrome
Kyphosis, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Sco... OMIM:248800
Crisponi Syndrome
Kyphosis, Respiratory insufficiency, Scoliosis ORPHA:1545
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... ORPHA:2330
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Atelis Syndrome 2
Sacral dimple, Dyspnea, Kyphosis, Elevated circulating thyroid-stimulating hormone concentration,... OMIM:620185
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Kyphosis, Hypoplasia of penis, Short neck ORPHA:3082
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira... OMIM:618291
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Kyphosis, Dyspnea, Resp... OMIM:211530
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating cer... OMIM:620306
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Micropenis OMIM:248700
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ova... ORPHA:1333
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Impaired glucose tolerance,... ORPHA:769
Bruck Syndrome
Kyphosis, Platyspondyly, Respiratory insufficiency, Scoliosis ORPHA:2771
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Holt-Oram Syndrome
Ventricular septal defect, Kyphosis, Anomalous pulmonary venous return, Hypoplastic left heart, S... ORPHA:392
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Ventricular septal defect, Respiratory insufficiency OMIM:619909
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Kyphosis, Mitral valve prolapse, Pulmonic stenosis, Scoliosis OMIM:609008
Ruvalcaba Syndrome
Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphysis morphology ORPHA:3121
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... OMIM:619573
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hurler Syndrome
Hepatomegaly, Short neck, Splenomegaly, Hypoplasia of the odontoid process, Kyphosis, Enlarged to... OMIM:607014
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Kyphosis, Scoliosis ORPHA:464282
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Pulmonary embolism... ORPHA:3260
Scapuloperoneal Spinal Muscular Atrophy
Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis OMIM:181405
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... ORPHA:439
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Esophageal Atresia
Respiratory distress, Abnormal external genitalia, Ventricular septal defect, Maternal diabetes, ... ORPHA:1199
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... ORPHA:2232
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Scoliosis OMIM:314580
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Spinal rigidity, Cardiomegaly, Hyperlordosis,... ORPHA:268
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Enlarged kidney OMIM:618272
Coccidioidomycosis
Respiratory distress, Abnormal sperm morphology, Pericarditis, Pneumonia, Eosinophilia, Abscess, ... ORPHA:228123
Lateral Meningocele Syndrome
Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... ORPHA:2789
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free fatty ac... OMIM:610768
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Peri... OMIM:212065
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Cutaneous Mastocytoma
Dyspnea, Lymphadenopathy ORPHA:79455
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Increased serum... OMIM:252500
Sandhoff Disease
Hepatomegaly, Impotence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Koolen-De Vries Syndrome
Vertebral fusion, Hypospadias, Bicuspid aortic valve, Kyphosis, Cryptorchidism, Vertebral segment... ORPHA:96169
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... OMIM:183900
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Glucos... OMIM:219090
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ... ORPHA:1517
Sarcoidosis
Increased T cell count, Leukopenia, Cough, Emphysema, Hypothyroidism, Hepatomegaly, Hemolytic ane... ORPHA:797
Cockayne Syndrome Type 2
Hepatomegaly, Kyphosis, Cryptorchidism, Scoliosis, Male hypogonadism ORPHA:90322
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Brain abscess, Lumbar hyperlordosis, Kyphosis, Irregular men... OMIM:616482
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Brain abscess, Dyspnea, Hemothorax, Hypoxemia, Restrictive vent... OMIM:187300
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Tachypnea,... ORPHA:3427
Prader-Willi Syndrome
Hypoventilation, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormo... OMIM:176270
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis... OMIM:253010
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Cohen Syndrome
Ventricular septal defect, Kyphosis, Cryptorchidism, Neutropenia, Mitral valve prolapse, Scoliosi... ORPHA:193
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentrat... OMIM:274150
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... ORPHA:100075
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Repeated pneumothoraces, Ventricular septal defect, Kyphosis, Cryptorchidism, Scolio... OMIM:617602
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a... OMIM:300942
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypothyroidism,... ORPHA:699
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Recurrent pneumonia, Scoliosis, Atrial septal d... OMIM:616449
Harrod Syndrome
Kyphosis, Hypospadias, Scoliosis, Cryptorchidism ORPHA:2115
Shashi-Pena Syndrome
Hypoglycemia, Kyphosis, Scoliosis, Atrial septal defect, Cervical C2/C3 vertebral fusion OMIM:617190
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hepatomegaly, Elevated circulating creatine kinase concentration... ORPHA:365
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Restrictive ventilatory defect,... ORPHA:15
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Distal Triplication 15Q
Abnormal external genitalia, Kyphosis, Abnormal heart morphology, Hydrocele testis, Scoliosis, At... ORPHA:314588
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Neonat... ORPHA:3008
Mgat2-Cdg
Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Ventricular sep... ORPHA:79329
Cowden Syndrome 6
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615109
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Cowden Syndrome 5
Hyperthyroidism, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Scoliosis, Thyroid adenom... OMIM:615108
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Stickler Syndrome, Type I
Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebr... OMIM:108300
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Br... ORPHA:100080
Camurati-Engelmann Disease
Hepatomegaly, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral col... ORPHA:1328
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... ORPHA:763
Graft Versus Host Disease
Pneumonia, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia ORPHA:39812
Farber Disease
Respiratory distress, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Hepatosplenom... ORPHA:333
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve... ORPHA:1724
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat... ORPHA:582
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent... OMIM:619381
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... ORPHA:447
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Familial Aortic Dissection
Paroxysmal dyspnea, Cardiomegaly, Exertional dyspnea ORPHA:229
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies,... ORPHA:2916
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Neonatal asphyxia, Hypochromic microcytic anemia, Anemia ORPHA:440713
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tol... OMIM:256040
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalc... ORPHA:667
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia, Megaloblastic anemia OMIM:300322
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Kyphosis, Cryptor... OMIM:130720
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Micropenis, Scoliosis, Cryptorchidism ORPHA:364028
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Respiratory insufficiency, Scoliosis, Mildly eleva... OMIM:620351
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Adrenocortical adenoma, Pheochromocytoma, P... ORPHA:139411
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Kyphosis, Thoracic scoliosis, Ventricular septal defect OMIM:603387
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Dyspnea, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concentrat... ORPHA:2215
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Scoliosis, Cardiomegaly OMIM:618143
Bardet-Biedl Syndrome 9
Hyperglycemia, Irregular menstruation OMIM:615986
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... OMIM:181000
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Mucopolysaccharidosis Type 3
Hepatomegaly, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsillitis, Upper airway obstru... ORPHA:581
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Increased... OMIM:261740
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Respiratory insufficiency, Platyspondyly, Atrial ... ORPHA:1860
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri... ORPHA:96191
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Brain abscess, Epistaxis, Rectocele, ... ORPHA:2929
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Kyphosis, Hypoplastic labia minora, Clitoral hypoplasia, Sco... ORPHA:2510
Arthrogryposis, Distal, Type 4
Hypoplastic labia majora, Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
Desbuquois Dysplasia 1
Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Opitz Gbbb Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Aspiration, Micropenis OMIM:300000
Lymphangioleiomyomatosis
Dyspnea, Abnormality of the lymphatic system, Pneumothorax, Chylopericardium, Lymphadenopathy, Re... ORPHA:538
Telangiectasia, Hereditary Hemorrhagic, Type 2
Spontaneous, recurrent epistaxis, Brain abscess, Dyspnea, Pulmonary arterial hypertension, Polycy... OMIM:600376
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Pontine Tegmental Cap Dysplasia
Aspiration, Hemivertebrae, Scoliosis OMIM:614688
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Abnormal mitral valve morphology, Splenomegal... ORPHA:576
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Rett Syndrome
Kyphosis, Apnea, Scoliosis, Intermittent hyperventilation OMIM:312750
Oculopharyngodistal Myopathy 1
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... OMIM:164310
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Hypogonadotropic hypogonadism, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty,... OMIM:619718
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Trisomy 20P
Hypospadias, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Vertebr... ORPHA:261318
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Pneumonia, Decreased response to growth hormone stimul... ORPHA:1855
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper... OMIM:269880
Hennekam Syndrome
Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Respiratory insufficiency, Lympha... ORPHA:2136
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Epistaxis, Elevated circulating creatine kinase concent... ORPHA:99827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Aicardi-Goutières Syndrome
Diabetes mellitus, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chroni... ORPHA:51
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Diabetes mellitus, Hypertriglyceridemia, Kyphoscoliosis, Peric... ORPHA:536532
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertr... OMIM:151660
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Kyphosis, Asthma, Hypogonadism, Scoliosis, Micropenis ORPHA:500055
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Ambiguous genitalia, Short neck, Kyphosis, Male pseudohermaph... ORPHA:140
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Ventricular septal defect, Kyphosis, Cryp... OMIM:610443
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Br... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Br... ORPHA:100082
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Glycosuria, Fa... ORPHA:2088
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce... ORPHA:100085
Absence Of The Pulmonary Artery
Orthopnea, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Abnor... ORPHA:980
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Short neck, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:85293
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en... ORPHA:3042
3M Syndrome
Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility... ORPHA:2616
Marshall-Smith Syndrome
Thoracic scoliosis, Apnea, Ventricular septal defect, Kyphoscoliosis, Bilateral cryptorchidism, H... OMIM:602535
Tropical Endomyocardial Fibrosis
Orthopnea, Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,... ORPHA:75565
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,... OMIM:245600
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Pulmonary arterial hypertension, Scoliosis OMIM:259420
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis OMIM:617061
Pelizaeus-Merzbacher Disease
Kyphosis, Respiratory insufficiency, Scoliosis ORPHA:702
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Aspartylglucosaminuria
Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope... OMIM:208400
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Tetralogy of... ORPHA:3384
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis, Aspiration OMIM:613454
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Short neck, Kyphosis, Cryptorc... OMIM:616894
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Elevated circulating creatine kinas... OMIM:606070
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Glucose intolerance, Hyper... OMIM:608612
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Scoliosis ORPHA:2148
Poland Syndrome
Diabetes mellitus, Hypospadias, Dextrocardia, Short neck, Kyphosis, Cryptorchidism, Hemivertebrae... ORPHA:2911
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Central hypoventilation, Decreased response to growth hormone stim... ORPHA:293987
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Pneumonia, Pericardial... OMIM:615846
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Hyperuricemia ORPHA:261222
Postencephalitic Parkinsonism
Kyphosis, Camptocormia, Abnormal respiratory system physiology, Cough ORPHA:97349
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration, Mildly elevated creatine kinase ORPHA:600
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis OMIM:620232
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis OMIM:618443
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Microphthalmia, Lenz Type
Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis ORPHA:568
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Hypocalcemia, Aspiration, Micropeni... OMIM:619503
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Interstitial emphysema, Bronchiectasis, Rectovaginal fistula, Lymphopenia OMIM:619708
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia, Hyperammonemia OMIM:615453
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,... OMIM:600001
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Hy... ORPHA:444077
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... OMIM:615954
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Short neck, Kyphosis, Cryptorchidism, Vertebral segmentation defect, S... ORPHA:251014
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Abnorma... ORPHA:449563
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia,... OMIM:130650
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Uterus didelphys, Bicornuate uterus, Scoliosis, Butterfly ve... ORPHA:958
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Pancreatoblastoma
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology ORPHA:677
Atypical Werner Syndrome
Fasting hyperinsulinemia, Hyperglycemia, Premature ovarian insufficiency, Abnormal circulating le... ORPHA:79474
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Apnea, Elevated circulating creatine kinase concentration, Short n... ORPHA:800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Scoliosis, Exertional dyspnea ORPHA:91387
Coffin-Lowry Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Abnormal ao... ORPHA:192
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Pulmonic ... ORPHA:100078
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increas... OMIM:227810
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Kyphosis, Recurrent pneumonia, Male urethral meatus steno... ORPHA:464738
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Ventricular septal defect, Stridor, Aspiration OMIM:614653
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Lymphocytic interstitial pneumonia, Nonproductive cough, Thromboc... ORPHA:289390
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... OMIM:248370
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... ORPHA:273
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Crypto... OMIM:265000
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Recurrent pneumonia, Scoliosis, Hypoventilation OMIM:618493
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Alexander Disease
Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, Respiratory insuffici... ORPHA:58
Mend Syndrome
Sacral dimple, Kyphosis, Cryptorchidism, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol... ORPHA:401973
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal p... ORPHA:449432
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tachypnea, Polycystic ovarie... ORPHA:137675
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Increased circulating co... OMIM:219080
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Neonatal respiratory distress, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Hyperbilirubinemia, Hyperglycemia, Annular pancreas, Pancr... OMIM:615710
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Kyphoscoliosis, Kyphosis, Cryptorchidism, Abnormality of the Leydig cells, Testicula... ORPHA:3063
Autosomal Recessive Robinow Syndrome
Sacral dimple, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog... ORPHA:1507
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... ORPHA:79277
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Panhypopitu... OMIM:618922
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Scoliosis, Hyperlordosis OMIM:128100
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... ORPHA:363958
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Kyphosis, Hypogonadism, Scoliosis, Decreased testicular size ORPHA:261349
Cleft Larynx, Posterior
Aspiration OMIM:215800
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Elevated circulating creatine kinase concentration OMIM:618733
Behçet Disease
Pericarditis, Pulmonary embolism, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnormal... ORPHA:117
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Short neck, Hypoplastic 5t... ORPHA:955
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypothyroidism, Hypercholesterolemia, Scoliosis ORPHA:2479
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Spinocerebellar Ataxia Type 8
Aspiration, Impotence ORPHA:98760
Pierson Syndrome
Hypoproteinemia OMIM:609049
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Complete atrioventricular canal defect, Hypercalcemia, Scoliosis ORPHA:476126
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis, Mitral valve prolapse OMIM:177850
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Respiratory failure, Cardiomegaly ORPHA:158687
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Posterior pituitary hypoplasia,... ORPHA:464311
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Low back pain, Kyphosis, Aortic valve calcification... OMIM:203500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos... OMIM:143095
Familial Mediterranean Fever
Orchitis, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:342
Nephroblastoma
Lymphadenopathy ORPHA:654
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Platyspondyly, Sclerotic vertebral body, Hypocalcemia OMIM:618476
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Myocarditis, Tachypnea, Glycosuria, Hypokalemia, I... ORPHA:466677
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Wolf-Hirschhorn Syndrome
Sacral dimple, Hypospadias, Abnormal heart valve morphology, Kyphosis, Cryptorchidism, Abnormal f... ORPHA:280
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Dextrocardia, Situs inversus t... ORPHA:2461
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Abnormality of the spleen, Kyp... ORPHA:1606
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Scoliosis, Aspiration... OMIM:619482
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Ventricular septal defect, Kyphosis, Cryptorchidism, ... ORPHA:464306
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Kyphosis, Cryptorchidism, Respiratory insuffici... ORPHA:534
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Neo... ORPHA:420741
Malakoplakia
Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Prostate neoplasm, Cough ORPHA:556
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Developmental And Epileptic Encephalopathy 100
Thoracolumbar kyphosis, Aspiration, Scoliosis OMIM:619777
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... ORPHA:268261
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis OMIM:617988
Halperin-Birk Syndrome
Aspiration, Perimembranous ventricular septal defect OMIM:618651
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Weaver Syndrome
Hydrocele testis, Kyphosis, Scoliosis, Cryptorchidism OMIM:277590
Frank-Ter Haar Syndrome
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Secundum atr... OMIM:249420
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, ... ORPHA:653
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Abnormal heart morphology, Glycosuria, Hyperglycemi... ORPHA:99885
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Kyphosis, Abnormal mitral valve morphology, Scoliosis ORPHA:1969
Tay-Sachs Disease
Aspiration OMIM:272800
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Blau Syndrome
Pericarditis, Dyspnea, Splenomegaly, Lymphadenopathy, Pulmonary arterial hypertension, Abnormal s... ORPHA:90340
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Cockayne Syndrome A
Hepatomegaly, Splenomegaly, Kyphosis, Cryptorchidism, Irregular menstruation, Thymic hormone decr... OMIM:216400
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Scoliosis ORPHA:88628
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Cardiomyopathy ORPHA:2131
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Asthma, Adrenocorticotro... ORPHA:100079
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy, Leukocytosi... ORPHA:2331
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Pneumonia, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Asthma,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Pneumonia, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Asthma,... ORPHA:353277
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis, Apnea, Respiratory insufficiency, Congenital hypothyroidism OMIM:617527
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Short neck, Ky... ORPHA:818
Adnp Syndrome
Respiratory distress, Aspiration, Cryptorchidism ORPHA:404448
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebra... OMIM:259770
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Ventricular septal defect, Precoc... OMIM:194190
Multiple Endocrine Neoplasia, Type Iib
Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circulating calcitonin concentrati... OMIM:162300
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Pleural effusion, Atrial septal di... ORPHA:1677
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Lymphedema-Distichiasis Syndrome
Kyphosis, Tetralogy of Fallot, Ventricular septal defect, Chylothorax OMIM:153400
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis, Hyperventilation OMIM:618050
Monosomy 9Q22.3
Ovarian fibroma, Short neck, Kyphosis, Cardiac fibroma, Abnormality of the vertebral column ORPHA:77301
Bohring-Opitz Syndrome
Apnea, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasis, Annular pancreas ORPHA:97297
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Mitral valve prolapse OMIM:616914
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Hypospadias, Mitral atresia, Hypoglycemia, Tachypnea, Aortic valve atresia... OMIM:220111
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis OMIM:300966
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Plaa-Associated Neurodevelopmental Disorder
Kyphosis, Apnea, Respiratory insufficiency ORPHA:521426
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Neoplasm of the thymus, Splenomegaly... ORPHA:744
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Kyphosis, Cryptorchidism, Micropenis OMIM:133540
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis, Neonatal respiratory distress, Ventricular septal defect ORPHA:1393
Cockayne Syndrome
Hepatomegaly, Diabetes mellitus, Splenomegaly, Kyphosis, Cryptorchidism, Absence of pubertal deve... ORPHA:191
Alström Syndrome
Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ... ORPHA:64
Cdags Syndrome
Kyphosis, Hypospadias, Rectovaginal fistula OMIM:603116
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ky... OMIM:309000
Mend Syndrome
Kyphosis, Sacral dimple, Aortic valve stenosis, Cryptorchidism OMIM:300960
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Kyphosis, Epispadias, Crypto... ORPHA:2658
Osteogenesis Imperfecta
Abnormal endocardium morphology, Neonatal respiratory distress, Cervical kyphosis, Kyphosis, Vert... ORPHA:666
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... ORPHA:79078
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... ORPHA:3472
Neurofibromatosis Type 1
Abnormality of the endocrine system, Kyphosis, Cryptorchidism, Precocious puberty, Chronic myelog... ORPHA:636
Yellow Fever
Low back pain, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Pa... ORPHA:99829
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Hypospadias OMIM:609944
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Kyphosis, Cardiomyopathy, Scoliosis ORPHA:90324
Sotos Syndrome
Sacrococcygeal teratoma, Hypospadias, Ventricular septal defect, Hypercalcemia, Phimosis, Neonata... ORPHA:821
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Supernumerary nipple, Short neck, Cryptorchidism, Kyphosis, Scoliosis OMIM:619194
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Hyperuricemia, Abnormal form of the vertebral bodies ORPHA:2769
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Micropenis, Neonatal hypoglycemia ORPHA:457359
Classic Homocystinuria
Hepatomegaly, Kyphosis, Scoliosis, Pulmonary embolism ORPHA:394
17Q11 Microdeletion Syndrome
Precocious puberty, Kyphosis, Glomus jugular tumor, Abnormal heart morphology, Abnormality of the... ORPHA:97685
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertrophic cardiomyopathy OMIM:124000
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Turner Syndrome Due To Structural X Chromosome Anomalies
Atrial septal defect, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility,... ORPHA:99413
Mosaic Monosomy X
Atrial septal defect, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility,... ORPHA:99228
Monosomy X
Atrial septal defect, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility,... ORPHA:99226
Turner Syndrome
Atrial septal defect, Premature ovarian insufficiency, Bicuspid aortic valve, Female infertility,... ORPHA:881
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Shprintzen Omphalocele Syndrome
Kyphosis, Neonatal respiratory distress, Lumbar hyperlordosis, Scoliosis OMIM:182210
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Kyphosis, Spondylolysis, Scoliosis, Spondylo... OMIM:119600
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormality of the menstrual cycle, Abnormality of the endocrine syst... ORPHA:3385
Bilateral Perisylvian Polymicrogyria
Aspiration, Ectopic posterior pituitary, Apnea ORPHA:98889
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Kyphosis... OMIM:619475
Marfan Syndrome
Mitral valve calcification, Spontaneous pneumothorax, Kyphosis, Mitral valve prolapse, Scoliosis,... ORPHA:558
Viss Syndrome
Ventricular septal defect, Coronary sinus enlargement, Kyphosis, Asthma, Pneumothorax, Dyspnea, D... OMIM:619472
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Kyphosis, Hemivertebrae, Scoliosis, Atrial septal ... OMIM:617140
Coffin-Siris Syndrome 1
Sacral dimple, Hypospadias, Ventricular septal defect, Kyphosis, Cryptorchidism, Tetralogy of Fal... OMIM:135900
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial e... ORPHA:51608
Plague
Respiratory distress, Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteri... ORPHA:707
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Hypospadias ORPHA:85199
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Primrose Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circulating alpha-fetoprotein concent... OMIM:259050
Wrinkly Skin Syndrome
Kyphosis, Muscular ventricular septal defect, Cryptorchidism, Scoliosis, Atrial septal dilatation OMIM:278250
Ramon Syndrome
Kyphosis, Enlarged labia minora, Scoliosis OMIM:266270
Chikungunya
Cervical lymphadenopathy, Epistaxis, Lymphadenopathy ORPHA:324625
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Aortic valve stenosis, Scol... OMIM:182250
Stickler Syndrome
Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Mitral valve prolapse, Pl... ORPHA:828
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Cryptorchidism, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral ... ORPHA:2273
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Ectopic t... OMIM:113620
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Coffin-Lowry Syndrome
Uterine prolapse, Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Yunis-Varon Syndrome
Absent nipple, Hypospadias, Anterior concavity of thoracic vertebrae, Ventricular septal defect, ... OMIM:216340
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106

Histopathology

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

There is no histopathology data for Fam221a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fam221a.

No publications found that use IMPC mice or data for Fam221a.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Fam221atm45213(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fam221aem1(IMPC)Ccpcz Exon Deletion Mice
Fam221atm45213(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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