Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Fam221a MGI:2442161

Gene Summary

Name:

family with sequence similarity 221, member A

Synonyms:

D330028D13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased airway resistance	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	4.02×10^-07
increased circulating total protein level	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	1.62×10^-08
abnormal eye morphology	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased erythrocyte cell number	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	4.37×10^-05
increased neutrophil cell number	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	1.02×10^-05
increased hematocrit	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	4.89×10^-05
increased circulating glucose level	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	3.81×10^-05
abnormal lymph node morphology	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
kyphosis	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	3.04×10^-05
enlarged heart	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD8-positive, naive alpha-beta T cell number	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	6.53×10^-06
abnormal testis morphology	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spine curvature	Fam221a^{em1(IMPC)Ccpcz}	HOM	Early adult	5.71×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Skull Lateral Orientation

16 Images

View images

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.

Human diseases associated with Fam221a (0 diseases)
Human diseases predicted to be associated with Fam221a (986 diseases)

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	Matching phenotypes	Source
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Erythrocytosis, Familial, 4	Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin...	OMIM:611783
Erythrocytosis, Familial, 5	Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin...	OMIM:617907
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Multiple Myeloma	Anemia, Lymphadenopathy, Vertebral compression fracture, Hypercalcemia, Splenomegaly, Hyperprotei...	ORPHA:29073
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Reticuloendotheliosis, X-Linked	Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt...	OMIM:267700
Erythrocytosis, Familial, 2	Elevated circulating erythropoietin concentration, Increased circulating hemoglobin concentration...	OMIM:263400
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603552
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Scoliosis, Hypoproteinemia, Cardiomyopathy, Leukocytosis, ...	OMIM:615895
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypo...	OMIM:603553
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia	OMIM:207731
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, ...	ORPHA:90362
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co...	ORPHA:54251
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Immunodeficiency 104	Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia	OMIM:608971
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Hypot...	OMIM:226300
Ethanolaminosis	Cardiomegaly	OMIM:227150
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism, Hyperglycemia, Abnormalit...	OMIM:307500
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky...	OMIM:300718
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Johanson-Blizzard Syndrome	Abnormality of the female genitalia, Anemia, Hypospadias, Dextrocardia, Hypoplasia of penis, Abno...	ORPHA:2315
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypo...	ORPHA:1655
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ...	OMIM:613101
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly,...	OMIM:237800
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Hepatomegaly, Glucose intolerance, Azoospermia, Car...	OMIM:235200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ventricular septal defe...	OMIM:235255
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Down Syndrome	Delayed puberty, Atrioventricular canal defect, Atlantoaxial dislocation, Leukemia, Abnormality o...	ORPHA:870
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Kyphoscoliosis	OMIM:300886
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:611225
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Sandhoff Disease	Hepatomegaly, Splenomegaly, Kyphosis	ORPHA:796
Leptospirosis	Hepatomegaly, Lymphadenopathy, Pericarditis, Thrombocytopenia, Hyperproteinemia	ORPHA:509
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve...	OMIM:241600
Congenital Toxoplasmosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Cardiomegaly	ORPHA:858
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly	ORPHA:100025
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Dec...	OMIM:611926
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr...	OMIM:308240
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Sp...	OMIM:602450
Hypermanganesemia With Dystonia 1	Increased total iron binding capacity, Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemi...	OMIM:613280
Hemochromatosis, Type 3	Anemia, Cardiomyopathy, Impotence, Increased circulating iron concentration, Lymphopenia, Elevate...	OMIM:604250
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Kyphosis, Abnormal mi...	ORPHA:1354
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Scoliosis, Hypothyroidism...	OMIM:619750
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Elevated circulating creatine kinase concentration, Decreased circulating cortisol level,...	OMIM:618838
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, ...	OMIM:618886
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto...	ORPHA:167
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Abnorma...	ORPHA:99886
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Cervical spinal canal stenosis, Hypoplasia of the prostate, Scoliosis, Kyphosis,...	OMIM:301900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Scoliosis, Anemia, Kyphosis	ORPHA:2598
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Dengue Fever	Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly	ORPHA:99828
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Anemia, Pancytopenia, Hyperhomocystinemia, Leukocytosis...	ORPHA:542643
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocyto...	OMIM:615631
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Elevated circulating carcinoembryonic antigen concentration, ...	ORPHA:100083
Heme Oxygenase 1 Deficiency	Hepatomegaly, Thrombocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopa...	OMIM:614034
Bethlem Myopathy 2	Scoliosis, Elevated circulating creatine kinase concentration, Kyphosis	OMIM:616471
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Hepatomegaly, Increased mean corpuscular hemoglobin concentration, Increased...	OMIM:616689
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, ...	ORPHA:3085
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky...	OMIM:617404
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Hepatomegaly, Hypoketotic hypoglycemia, Hypocalcemia, Patent foramen ovale,...	ORPHA:26793
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos...	OMIM:271530
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Kyphoscoliosis, Scoliosis, Ventricular hypertrophy, Cardiomyopathy, Elev...	OMIM:300280
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Increased total iron binding capacity, Hepatomegaly, Abnormal blood inorganic cation concentratio...	ORPHA:309854
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hepatomegaly, Card...	ORPHA:465508
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ...	OMIM:618858
Roifman Syndrome	Biconvex vertebral bodies, Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eos...	ORPHA:353298
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly	OMIM:269920
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis	OMIM:600175
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Abnormal testis morphology, Hypospadias, Kyphosis	ORPHA:1548
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:729
Roifman Syndrome	Biconvex vertebral bodies, Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomeg...	OMIM:616651
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Maternal diab...	OMIM:300855
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Griscelli Syndrome Type 2	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenomegaly, Neut...	ORPHA:79477
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hepatomegaly, Scoliosis, Kyphosis, Splenomegaly, Platyspondyly	OMIM:230650
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Diabetes Mellitus, Transient Neonatal, 3	Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, ...	OMIM:610582
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Chol...	OMIM:266200
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe...	OMIM:606176
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Splenomegaly, Cholelithiasis, Reticulocytosis	OMIM:224100
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut...	OMIM:616738
Abcd Syndrome	Polycythemia	OMIM:600501
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ...	ORPHA:824
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Kyphosis	ORPHA:85288
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes...	OMIM:304790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocytic hemoly...	OMIM:235700
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Congenital Myopathy 8	Cardiomegaly, Scoliosis	OMIM:618654
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Fetal Akinesia Deformation Sequence 4	Short neck, Cryptorchidism, Kyphosis	OMIM:618393
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomega...	ORPHA:98848
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells...	ORPHA:276
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Back pain, Splenomegaly, Hemolytic anemia	ORPHA:56425
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy,...	ORPHA:83469
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism	ORPHA:88643
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Panc...	ORPHA:892
Sickle Cell Disease	Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Priap...	OMIM:603903
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato...	ORPHA:247585
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso...	ORPHA:3226
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis	OMIM:618512
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea...	ORPHA:481
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of penis, Pancytopenia, Leukocytosis, H...	ORPHA:99812
Cyanosis, Transient Neonatal	Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Harderoporphyria	Hepatomegaly, Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating f...	OMIM:618892
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp...	OMIM:262190
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Cryptorchidism, Abnormal circulating creatine kinase concent...	OMIM:618484
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Adrenocortica...	ORPHA:116
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia, Cryptorchidism	OMIM:608093
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadeno...	OMIM:619644
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade...	ORPHA:829
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Primary testicular failure, Decrea...	ORPHA:85450
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Mogs-Cdg	Hypoventilation, External genital hypoplasia, Hepatomegaly, Inappropriate antidiuretic hormone se...	ORPHA:79330
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Cholelithiasis, Reticulocytosis, Pericardial effus...	ORPHA:846
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Sclerotic vertebral endplates	OMIM:611490
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Elevated circulating creatine kinase concentration, Kyphosis, Hypergonadotropic ...	OMIM:615084
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leu...	OMIM:619991
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Leukopenia, Abnormal circulating f...	ORPHA:2298
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:319487
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level	OMIM:618856
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Nephrotic Syndrome, Type 1	Hypothyroidism, Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper...	OMIM:600649
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Mody	Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Pancreatic ...	ORPHA:552
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating...	OMIM:212140
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Kyphosis, Hyposegmentation of neutrophil nuclei, Thro...	OMIM:169400
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:545
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Unconjugated h...	OMIM:300908
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, He...	ORPHA:98850
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomegaly, Cardiom...	OMIM:252920
Autism Spectrum Disorder Due To Auts2 Deficiency	Scoliosis, Kyphosis, Abnormal heart morphology, Atrial septal defect, Cryptorchidism	ORPHA:352490
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadenoma of the epididymis...	OMIM:193300
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Sideroblastic anemia, T...	OMIM:222300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Scoliosis, Kyphosis, Hypoglycemia, Abnormality of the cervical spine, Hypogonadotropic hypogonadism	ORPHA:48431
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:97290
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Abnormal heart valve morphology, Vacuolated lymphocyte...	OMIM:230500
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Scoliosis, Cryptorchidism, Kyphosis	OMIM:611890
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi...	OMIM:256550
Mevalonic Aciduria	Kyphoscoliosis, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactiv...	OMIM:610377
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis	OMIM:615290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Male hypogonadism, Hepatomegaly, Scoliosis, Kyphosis, Cryptorchidism, Insul...	OMIM:615381
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:616756
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Short neck, Abnormal reticulocyte...	ORPHA:2522
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ...	OMIM:606367
Winchester Syndrome	Kyphosis	OMIM:277950
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom...	OMIM:618935
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal...	OMIM:615122
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Alpha-Mannosidosis	Hepatomegaly, Scoliosis, Kyphosis, Type II diabetes mellitus, Splenomegaly, Short neck	ORPHA:61
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Elevated circulating creatine kinase concentration, Kyphosis, Hypergonadotropic ...	ORPHA:352447
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Nocturnal hypoventilation, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concent...	OMIM:607155
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis	OMIM:608106
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Cryptorchidism, Kyphosis	ORPHA:178148
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Fumarase Deficiency	Hyperbilirubinemia, Polycythemia, Perimembranous ventricular septal defect	OMIM:606812
Griscelli Syndrome	Abnormal circulating lipid concentration, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellular...	ORPHA:381
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Hypertrophic cardiomyopathy	OMIM:618237
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Alg1-Cdg	Scoliosis, Cardiomyopathy, Kyphosis, Abnormal heart morphology, Hypoalbuminemia	ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 54	Scoliosis, Hyperglycemia, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:619737
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Scoliosis, Membranous subvalvular aortic stenosis, Kyph...	ORPHA:3191
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased red ...	OMIM:194380
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpuscular volu...	ORPHA:232
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Cardiomegaly,...	OMIM:614702
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Lympha...	OMIM:602782
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Pfapa Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Decreased testicular size, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:615433
Castleman Disease	Anemia, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymph...	ORPHA:160
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve p...	ORPHA:324410
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Kyphosis	ORPHA:87876
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:618234
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Epididymitis, C...	OMIM:300755
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Hereditary Spherocytosis	Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corpuscular he...	ORPHA:822
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:540
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Kyphosis, Asplenia, Pulmonic stenosis, ...	OMIM:619123
Masa Syndrome	Hyperlordosis, Kyphosis	OMIM:303350
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Kyphosis, Left ventricular hypertrophy	OMIM:619040
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Fish-Eye Disease	Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly	ORPHA:79292
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy, Pancytopenia	OMIM:613987
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Micr...	OMIM:257200
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Kyphosis, Pericardial effusion, Short neck, Splenomegaly, Hyp...	OMIM:608776
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central ...	ORPHA:514
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Cryptorchidism, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c	OMIM:609812
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, Lymphadenopathy, Increased intervertebral space, Scoliosis, T lymphocytopenia, Hy...	OMIM:607944
Cantu Syndrome	Bicuspid aortic valve, Platyspondyly, Pericardial effusion, Ovoid vertebral bodies, Congenital hy...	OMIM:239850
Mcdonough Syndrome	Scoliosis, Cryptorchidism, Kyphosis	ORPHA:2471
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Abnormal heart morphology, Hyperglycemia, Atrial septal defect, Cryptorchidism	OMIM:175700
Granulomatous Slack Skin	Abnormal lymph node morphology, Hypercalcemia	ORPHA:33111
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
H Syndrome	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased t...	ORPHA:168569
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P...	OMIM:618278
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis	OMIM:615761
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Necrotizing Enterocolitis	Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Abnormal heart morphology, Hyperglycemi...	ORPHA:391673
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Scoliosis, Elevated circulating creatine kinase concentration, Kyphosis, Short neck	ORPHA:75840
Weismann-Netter Syndrome	Anemia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Abnormality of the thyroid gland	ORPHA:3344
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Metrorrhagia, ...	ORPHA:520
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr...	OMIM:618849
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:608600
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret...	ORPHA:71275
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Hypoglycem...	OMIM:601005
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Scoliosis, Cryptorchidism, Kyphosis	OMIM:619797
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Hereditary Elliptocytosis	Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly...	ORPHA:288
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, H...	ORPHA:42
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegal...	OMIM:185000
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Kyphosis, Hypothyroidism, Abnormal sacrum ...	ORPHA:324737
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Hypospadias, Kyphosis, Decreased testicular size, Hypogonadism, Cryptorchidism, ...	OMIM:300354
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conce...	ORPHA:50918
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v...	OMIM:230000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence	ORPHA:85447
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Ruvalcaba Syndrome	Delayed puberty, Scoliosis, Cryptorchidism, Kyphosis	OMIM:180870
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er...	OMIM:301083
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Scoliosis	ORPHA:3137
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Decreased respon...	OMIM:203800
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Spina bifida occulta, Abnormal form of the vertebral bodies, Abnormal intervertebral...	ORPHA:2311
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate antidiureti...	ORPHA:79124
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Chediak-Higashi Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Leukopenia, Splenomegaly, Impaired neutr...	OMIM:214500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly	OMIM:619064
Ck Syndrome	Scoliosis, Hyperlordosis, Kyphosis	OMIM:300831
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Genitopalatocardiac Syndrome	Hypospadias, Scoliosis, Kyphosis, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorch...	ORPHA:2075
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Hypospadias, Fasting hypoglycemia, Aspirat...	ORPHA:96182
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Hypoplasia of pe...	ORPHA:7
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Short neck, Thoracic scoliosis, Cardiomegaly, Overriding aorta, Ventric...	OMIM:617022
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Glycogen Storage Disease Vii	Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosi...	OMIM:232800
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan...	OMIM:615688
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia	OMIM:604484
Long-Olsen-Distelmaier Syndrome	Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Hypoglycemia, Ventricular septal def...	OMIM:620609
Aarskog-Scott Syndrome	Delayed puberty, Scoliosis, Bilateral cryptorchidism, Short neck, Hypoplasia of the odontoid proc...	OMIM:305400
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho...	OMIM:618223
Clark-Baraitser syndrome	Scoliosis, Macroorchidism, Kyphosis	OMIM:300602
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hypothyroidism, Hyperglycemia, Left ventricular hypertrophy, Hypopituitarism, Hyper...	ORPHA:90065
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase...	OMIM:201475
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Short neck, Ventricular se...	OMIM:616897
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Legionnaires Disease	Myocarditis, Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, Pericarditis, Splenomega...	ORPHA:549
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Scoliosis, Kyphosis, Secundum atrial septal defect, Cryptorchidism, Micrope...	OMIM:619951
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Scoliosis, Kyphosis, Micropha...	ORPHA:94065
Leukocyte Adhesion Deficiency	Perianal abscess, Vaginitis, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia, Recurrent ton...	ORPHA:2968
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic ...	OMIM:301040
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Premature ovarian insufficiency, Kyphosis	OMIM:618124
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chr...	ORPHA:97289
19P13.12 Microdeletion Syndrome	Hypospadias, Scoliosis, Hyperlipidemia, Kyphosis, Cryptorchidism, Precocious puberty, Hypothyroid...	ORPHA:254346
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s...	ORPHA:2035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis, Vertebral...	OMIM:606612
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Kyphosis, Ovoid vertebral bodies, Splenomegaly, Short neck	ORPHA:583
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Kyphosis, Hypogonadism, Short neck, Cryptorchidism	ORPHA:3409
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism, ...	OMIM:306955
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Hypoplasia of penis, Kyphosis, Hypogonadism, Small scrotum, Short neck	ORPHA:2983
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili...	ORPHA:91547
Donohue Syndrome	Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Precocious puberty, Hyp...	OMIM:246200
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Hypoplastic labia minora, Kyphosis, Abnormal scrotum morphology,...	ORPHA:64755
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Hepatomegaly, Lumbar kyphosis, Abnormal heart valve morphol...	OMIM:253000
Hall-Riggs Syndrome	Platyspondyly, Scoliosis, Irregular vertebral endplates, Kyphosis	OMIM:234250
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Abetalipoproteinemia	Kyphoscoliosis, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hypotriglyceridemi...	ORPHA:14
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos...	ORPHA:2635
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatomegaly, Anemia, Cardiomegaly, Elevated circulating C-reactive protein concentration, Congen...	OMIM:620376
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Hypoglycemia, Thrombocy...	ORPHA:134
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Scoliosis, Ventricular septal defect, Kyphosis, Thrombocytopen...	ORPHA:261250
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint...	ORPHA:32960
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Increased LDL cholesterol concentration, Hyperlordosis, Sc...	ORPHA:98855
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Cholelithias...	OMIM:615512
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Anisospondyly, ...	OMIM:156530
Schaaf-Yang Syndrome	Scoliosis, Kyphosis, Hypogonadism, Cryptorchidism, Micropenis	OMIM:615547
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Magel2-Related Prader-Willi-Like Syndrome	External genital hypoplasia, Premature pubarche, Small pituitary gland, Scoliosis, Hypoplastic la...	ORPHA:398069
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Increased LDL cholesterol concentration, Hyperlordosis, Sc...	ORPHA:98863
Cowden Syndrome 1	Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hype...	OMIM:158350
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:619183
Sialidosis Type 1	Scoliosis, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:812
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Transient hyperlipidemia, Elevated circulating creatine k...	OMIM:255120
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Increased LDL cholesterol concentration, Hyperlordosis, Sc...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Increased LDL cholesterol concentration, Hyperlordosis, Sc...	ORPHA:98853
Brucellosis	Lung abscess, Myocarditis, Liver abscess, Anemia, Lymphadenopathy, Elevated circulating C-reactiv...	ORPHA:1304
Diastrophic Dysplasia	Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Cryptorchidism, Hypoplastic cervical ...	ORPHA:628
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg...	ORPHA:57777
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Cardiomyopathy, Kyphosis, Abnorm...	ORPHA:354
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal ce...	OMIM:308230
Hsd10 Disease, Infantile Type	Cardiomegaly, Hyperammonemia, Hypoglycemia, Hypertrophic cardiomyopathy	ORPHA:391428
Typical Nemaline Myopathy	Nocturnal hypoventilation, Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creati...	ORPHA:171436
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Flynn-Aird Syndrome	Scoliosis, Kyphosis, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the...	ORPHA:2047
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Fused cervical vertebrae, Elevated circulating C-reactive protein concentration, Ne...	OMIM:612852
Fucosidosis	Anterior beaking of lumbar vertebrae, Hepatomegaly, Kyphosis, Hypothyroidism, Cardiomegaly	ORPHA:349
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis, Mildly elevated creatine kinase	ORPHA:536516
Marinesco-Sjogren Syndrome	Scoliosis, Elevated circulating creatine kinase concentration, Kyphosis, Hypergonadotropic hypogo...	OMIM:248800
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Infertility, Kyphosis	OMIM:614409
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Eosinophilia	ORPHA:139402
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Elevated circulating creatine kinase concentration, Kyphosis	OMIM:618138
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Scoliosis, Kyphosis, Aortic valve stenosis, S...	OMIM:252605
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Marburg Hemorrhagic Fever	Elevated circulating creatinine concentration, Lymphadenopathy, Hypokalemia, Neutrophilia in pres...	ORPHA:99826
Trisomy 13	Scoliosis, Kyphosis, Cryptorchidism, Displacement of the urethral meatus, Atrial septal defect, V...	ORPHA:3378
Intellectual Developmental Disorder, Autosomal Dominant 26	Scoliosis, Kyphosis	OMIM:615834
Rabson-Mendenhall Syndrome	Atrial septal defect, Clitoral hypertrophy, Increased circulating androgen concentration, Increas...	ORPHA:769
Noonan Syndrome 14	Hypertrophic cardiomyopathy, Kyphosis, Pulmonic stenosis, Mitral valve prolapse, Lymphopenia, Sho...	OMIM:619745
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Mitral valve prolapse	ORPHA:137834
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Neonatal hypoglycemia, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spl...	OMIM:619418
Prader-Willi Syndrome	Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Kyphosis, Small s...	OMIM:176270
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis	ORPHA:816
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla...	ORPHA:2232
Mucopolysaccharidosis, Type Vii	Anterior beaking of lumbar vertebrae, Platyspondyly, Hepatomegaly, Abnormal heart valve morpholog...	OMIM:253220
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Short neck, Dysplastic sacrum, Severe platyspondyly	OMIM:613320
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis, Cryptorchidism, Abnormal heart morphology, Ventricular septal defect	ORPHA:404440
Familial Pancreatic Carcinoma	Lymphadenopathy, Peritoneal abscess, Back pain, Hepatosplenomegaly, Pancreatic adenocarcinoma, Ov...	ORPHA:1333
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Pericardial effusion, Thrombocytopenia, Leukopenia, Microangiopathi...	ORPHA:93552
Rhizomelic Syndrome, Urbach Type	Pulmonic stenosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Emanuel Syndrome	Sacral dimple, Scoliosis, Truncus arteriosus, Ventricular septal defect, Kyphosis, Pulmonic steno...	OMIM:609029
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro...	ORPHA:83471
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Cryptorchidism, Kyphosis, Hypoplasia of penis	ORPHA:3082
Ullrich Congenital Muscular Dystrophy 1A	Nocturnal hypoventilation, Spinal rigidity, Scoliosis, Kyphosis, Mildly elevated creatine kinase	OMIM:254090
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Elevated circulating creatinine concentration, Hepatomegaly, Elevated circulatin...	OMIM:608836
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditis, ...	OMIM:249100
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Scrub Typhus	Myocarditis, Lymphadenopathy, Splenomegaly	ORPHA:83317
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly	ORPHA:36412
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Cervical spinal canal stenosis, Hepatomegaly, Decreased proportion of CD8-positive T cells, Sacra...	ORPHA:508533
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Puberty and gonadal disorders, Kyphosis	ORPHA:464282
Marden-Walker Syndrome	Dextrocardia, Hypospadias, Scoliosis, Kyphosis, Short neck, Cryptorchidism, Micropenis	OMIM:248700
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Scoliosis, Kyphosis, Pulmonic stenosis, Mitral valve prolapse	OMIM:609008
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal heart valve morphology, Granuloma, P...	ORPHA:781
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Pancreatic And Cerebellar Agenesis	Anemia, Pancreatic hypoplasia, Pancreatic aplasia, Secundum atrial septal defect, Hyperglycemia, ...	OMIM:609069
Holt-Oram Syndrome	Atrioventricular canal defect, Scoliosis, Anomalous pulmonary venous return, Kyphosis, Atrial sep...	ORPHA:392
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Hepatomegaly, Cardiomyopathy, Kyphosis, Hypergonadotropic hypogo...	OMIM:212065
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Elevated circulating creatine kinase concentration, Kyphosis	OMIM:151800
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:255200
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis	OMIM:617435
Ruvalcaba Syndrome	Delayed puberty, Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Cryptorchidism	ORPHA:3121
Thyroid Lymphoma	Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter	ORPHA:97285
Hurler Syndrome	Hepatomegaly, Cardiomyopathy, Kyphosis, Biconcave vertebral bodies, Short neck, Enlarged tonsils,...	OMIM:607014
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating procal...	ORPHA:36238
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Thanatophoric Dysplasia	Platyspondyly, Atrial septal defect, Kyphosis, Abnormal sacroiliac joint morphology	ORPHA:2655
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopa...	ORPHA:100093
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp...	OMIM:313400
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypothyroidism,...	OMIM:617713
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia, Adrenocortical adenoma, Postprandial hyper...	ORPHA:681
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Spinal rigidity, Hyperlordosis, Elevated circulating creatine kinase concentration, Right ventric...	ORPHA:268
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Sacral dimple, Kyphosis	OMIM:618272
Chromosome Xq26.3 Duplication Syndrome	Increased circulating insulin-like growth factor 1 concentration, Ventricular hypertrophy, Kyphos...	OMIM:300942
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoketotic hypo...	OMIM:610768
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Ventricular septal defect, Kypho...	ORPHA:2789
Hurler-Scheie Syndrome	Scoliosis, Hepatomegaly, Splenomegaly, Kyphosis	OMIM:607015
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Vertebral compression fracture, Impaired glucose tolerance, Kyphosis, Biconcave vert...	OMIM:219090
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Koolen-De Vries Syndrome	Hypospadias, Scoliosis, Vertebral segmentation defect, Kyphosis, Hypothyroidism, Vertebral fusion...	ORPHA:96169
Cantú Syndrome	Platyspondyly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Ovoid vertebral bodi...	ORPHA:1517
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Cockayne Syndrome Type 2	Hepatomegaly, Scoliosis, Kyphosis, Cryptorchidism, Male hypogonadism	ORPHA:90322
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Beaking of vertebral bodies T12-L3, Hepatomegaly, Increased serum beta-hexosamin...	OMIM:252500
Cowden Syndrome 6	Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hype...	OMIM:615109
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Abnormal heart valve morphology, Kyphosis, Hepatosplenomegaly, Splenomegaly, Short ...	OMIM:309900
Selective Igm Deficiency	Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased propo...	ORPHA:331235
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Scoliosis, Kyphosis, Decreased hemoglobin concentration, Thrombocytopenia, Cryptorc...	OMIM:619005
Neuroblastoma	Anemia, Lymphadenopathy, Thrombocytopenia, Elevated circulating catecholamine level, Increased ci...	ORPHA:635
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc...	ORPHA:228308
Cohen Syndrome	Delayed puberty, Scoliosis, Ventricular septal defect, Kyphosis, Mitral valve prolapse, Cryptorch...	ORPHA:193
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Scoliosis, Aortic valve stenosis, Pericardial effu...	ORPHA:363705
Camurati-Engelmann Disease	Delayed puberty, Hepatomegaly, Anemia, Abnormality of the vertebral column, Scoliosis, Hyperlordo...	ORPHA:1328
Cowden Syndrome 5	Thyroiditis, Scoliosis, Kyphosis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism,...	OMIM:615108
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Impotence	OMIM:268800
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Atrial septal defect, Atrioventricular canal d...	OMIM:619573
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Scoliosis, Hypoglycemia, Kyphosis, Atrial septal defect	OMIM:617190
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Sacral ...	OMIM:620185
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis	ORPHA:261190
Distal Triplication 15Q	Abnormal external genitalia, Scoliosis, Kyphosis, Abnormal heart morphology, Atrial septal defect...	ORPHA:314588
Harrod Syndrome	Scoliosis, Cryptorchidism, Hypospadias, Kyphosis	ORPHA:2115
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Scoliosis, Hyperlordosis, Kyphosis, Spinal canal stenosis, Platy...	ORPHA:582
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
Thanatophoric Dysplasia Type 2	Platyspondyly, Atrial septal defect, Kyphosis	ORPHA:93274
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Aspiration, Scoliosis, Hyperlordosis, Cardiomyopathy, Highly elevated creatine k...	ORPHA:258
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Vaginal hernia, Kyphosis, Hypopl...	ORPHA:2916
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased seru...	OMIM:614921
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Delayed puberty, Patent foramen ovale, Scoliosis, Ventricular septal defect, Kyph...	OMIM:300967
Carney Triad	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, A...	ORPHA:139411
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Scoliosis, Kyphosis	ORPHA:2181
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Congenital Syphilis	Myocarditis, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Hypoglycemia, Extrame...	ORPHA:499009
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1930
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Mitral v...	OMIM:108300
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis...	ORPHA:93314
Refsum Disease, Classic	Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly	OMIM:266500
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Hypospadias, Scoliosis, Kyphosis, Abnormal heart morphology, Bicuspid aortic valv...	OMIM:301111
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Impaired glucose tolerance, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lym...	ORPHA:99889
Medullary Thyroid Carcinoma	Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin c...	ORPHA:1332
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Scoliosis, Kyphosis	OMIM:617143
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Leukocytosis, Right atri...	OMIM:620233
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:1302
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H...	OMIM:256040
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Hypernatremia, Hyperglycemia, Thrombocytopenia, Hypoglycem...	OMIM:620423
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Ventricular septal defect, Ky...	ORPHA:1724
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis	OMIM:108145
X-Linked Intellectual Disability Due To Gria3 Mutations	Scoliosis, Cryptorchidism, Micropenis, Kyphosis	ORPHA:364028
Micro Syndrome	Delayed puberty, Hypoplasia of penis, Scoliosis, Hypoplastic labia minora, Kyphosis, Clitoral hyp...	ORPHA:2510
4Q21 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:238750
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Lateral Meningocele Syndrome	Scoliosis, Ventricular septal defect, Kyphosis, Biconcave vertebral bodies, Bicuspid aortic valve...	OMIM:130720
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia	ORPHA:1572
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis, Hypoplastic labia majora	OMIM:609128
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Hypospadias, Scoliosis, Kyphosis, Cryptorchidism, Micropenis, Hypogonadotropic h...	OMIM:619718
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Scoliosis, Cryptorchidism, Hepatomegaly	OMIM:618143
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Kyphosis, Thoracic scoliosis	OMIM:603387
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Scoliosis, Hyperlordosis, Kyphosis, Aortic valve stenosis, Ovoid vertebral bodies, ...	OMIM:253010
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Atypical pulmonary c...	ORPHA:100075
Middle Ear Neuroendocrine Tumor	Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100084
Bruck Syndrome 1	Vertebral wedging, Scoliosis, Platyspondyly, Kyphosis	OMIM:259450
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Opitz Gbbb Syndrome	Hypospadias, Aspiration, Cryptorchidism, Ventricular septal defect, Micropenis	OMIM:300000
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia	ORPHA:2089
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Scoliosis, Ventricular septal defect, Kyphosis, Atrial septal defect, Cryptorchidism	OMIM:617602
Crisponi Syndrome	Scoliosis, Kyphosis	ORPHA:1545
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Hy...	OMIM:151660
Bardet-Biedl Syndrome 9	Hyperglycemia, Irregular menstruation	OMIM:615986
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Kyphosis	OMIM:619909
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Lumbar hemivertebrae, Abnormal thymus morphology	ORPHA:2463
Lesch-Nyhan Syndrome	Megaloblastic anemia, Testicular atrophy, Hyperuricemia	OMIM:300322
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocrine system, ...	ORPHA:79329
Pontine Tegmental Cap Dysplasia	Aspiration, Scoliosis, Hemivertebrae	OMIM:614688
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Scoliosis, Hypertrophic cardiom...	ORPHA:51
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
3M Syndrome	Increased vertebral height, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Short neck, Decrease...	ORPHA:2616
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Spondylolisthesis, Scoliosis, Increased serum beta-hexosaminidase, Cardiomyopathy, ...	OMIM:252600
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomeg...	OMIM:306400
Short Syndrome	Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes ...	OMIM:269880
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Hypospadias, Scoliosis, Kyphosis, Atrial septal defect, Ventricular septal ...	OMIM:616449
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Bilateral cryptorchidism, Pos...	ORPHA:3042
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Coronary artery stenosis, Hypergly...	OMIM:615812
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormality of the thyroid gland	ORPHA:52417
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Atypical Rett Syndrome	Scoliosis, Kyphosis	ORPHA:3095
Pycnodysostosis	Decreased response to growth hormone stimulation test, Spondylolysis, Spondylolisthesis, Scoliosi...	ORPHA:763
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Immunodeficiency 82 With Systemic Inflammation	Anemia, Anoperineal fistula, Elevated circulating C-reactive protein concentration, Lymphadenopat...	OMIM:619381
Trisomy 20P	Hypospadias, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyp...	ORPHA:261318
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Scoliosis, Ventricular septal defect, Kyphosis, Pulmonic stenos...	OMIM:610443
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Kyphoscoliosis, Sacral dimple, Kyphosis, Cryptorchidism, Pericardial effusi...	ORPHA:536532
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis, Lymphadenopathy	ORPHA:39812
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Pigmented Nodular Adrenocortical Disease, Primary, 2	Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Kyphosis...	OMIM:610475
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Recurrent tonsillitis, Abnormal form of the verte...	ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Platyspondyly, Patent foramen ovale, Scoliosis, Mitral valve prolapse, Lef...	OMIM:245600
Esophageal Atresia	Abnormal vertebral morphology, Maternal diabetes, Aspiration, Abnormal external genitalia, Scolio...	ORPHA:1199
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of...	ORPHA:228123
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplasia of the odo...	OMIM:607326
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria,...	ORPHA:2088
Kasabach-Merritt Phenomenon	Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Thrombocytopenia, Micr...	ORPHA:2330
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Scoliosis, Kyphosis, Decreased testicular size, Hypogonadism, Short neck	ORPHA:85293
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Scoliosis, Ventricular septal defect, Kyphosis	OMIM:620511
Wieacker-Wolff Syndrome	Short neck, Scoliosis, Hyperlordosis, Kyphosis	OMIM:314580
Sweet Syndrome	Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly...	ORPHA:3243
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis	OMIM:617061
Familial Mediterranean Fever	Lymphadenopathy, Leukocytosis, Pericarditis, Orchitis, Splenomegaly, Low back pain	ORPHA:342
Rett Syndrome, Congenital Variant	Aspiration, Scoliosis, Kyphosis	OMIM:613454
Congenital Myopathy 22A, Classic	Spinal rigidity, Scoliosis, Kyphosis, Thoracic scoliosis, Mildly elevated creatine kinase	OMIM:620351
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Anemia, Hypoproteinemia, Rectocele, Brain abscess	ORPHA:2929
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Patent foramen ovale, Scoliosis, Ventricular septal defect, Kyphosis, Clitoral hyp...	OMIM:616894
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevated circulat...	ORPHA:97287
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Scoliosis, Sacral dimple, Spina bifida occulta, Kyphosis	OMIM:618291
Multiple Pterygium-Malignant Hyperthermia Syndrome	Scoliosis, Kyphosis, Cryptorchidism, Small scrotum, Abnormal circulating creatine kinase concentr...	ORPHA:2215
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Back p...	ORPHA:94068
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100080
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Elevated circulating C-reactive protein concentration, Nor...	ORPHA:91500
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hyperglycemia, Increa...	OMIM:615954
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypoplasia of the odontoid...	OMIM:183900
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Scoliosis	ORPHA:2148
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Pancytopenia,...	ORPHA:1855
Idiopathic Hypereosinophilic Syndrome	Anemia, Generalized lymphadenopathy, Myocardial eosinophilic infiltration, Myeloproliferative dis...	ORPHA:3260
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperinsulinemia, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes ...	OMIM:608612
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem...	OMIM:274150
Poland Syndrome	Acute leukemia, Hypospadias, Dextrocardia, Spina bifida occulta, Scoliosis, Hemivertebrae, Verteb...	ORPHA:2911
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Increased serum pyr...	ORPHA:3008
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Enlarged kidney, Hepatomegaly, Adrenocortical carcinoma, Cardiomyopathy, P...	OMIM:130650
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis	OMIM:618443
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Hyperuricemia	ORPHA:261222
Desbuquois Dysplasia 1	Scoliosis, Hyperlordosis, Kyphosis, Platyspondyly, Short neck	OMIM:251450
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Sarcoidosis	Enlarged lacrimal glands, Abnormality of the adrenal glands, Hepatomegaly, Anemia, Lymphadenopath...	ORPHA:797
Rett Syndrome	Intermittent hyperventilation, Scoliosis, Kyphosis	OMIM:312750
Farber Disease	Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:333
Leprechaunism	Clitoral hypertrophy, Hyperinsulinemia, Enlarged kidney, Hepatomegaly, Fasting hypoglycemia, Hypo...	ORPHA:508
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Cervical spinal canal stenosis, Generalized lymphadenopathy, Vertebral compression fracture	OMIM:620232
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Scoliosis, Hemivertebrae, Bicornuate uterus, Kyphosis, Uterus didelphys, Sho...	ORPHA:958
Aspartylglucosaminuria	Beaking of vertebral bodies, Hepatomegaly, Spondylolysis, Spondylolisthesis, Vacuolated lymphocyt...	OMIM:208400
Microphthalmia, Lenz Type	Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Cryptorchidism	ORPHA:568
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Kyphosis, Hypogonadism, Cryptorchidism, Micropenis	ORPHA:500055
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Trisomy 9P	Short neck, Scoliosis, Sacral dimple, Kyphosis	ORPHA:236
Isolated Sedoheptulokinase Deficiency	Hypochromic microcytic anemia, Anemia, Postprandial hyperglycemia	ORPHA:440713
Achondroplasia	Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h...	ORPHA:15
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp...	ORPHA:449432
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Generalized lymphadenopathy, Pancytopenia, Hypertrophic cardiomyopathy, Hyp...	OMIM:615846
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Hypoglycemia, Hyperglycemia	OMIM:615453
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Hyperlordosis, Kyphosis, Hyposegmentation of neutrophil nuclei, Thoracolumbar scol...	OMIM:618019
Crimean-Congo Hemorrhagic Fever	Myocarditis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Parotitis, Inappropriate antidiuretic h...	ORPHA:99827
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Abnormality of the cervical spine, Hepatosplenomegaly, Anemia	ORPHA:85408
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Kyphosis, Platyspondyly, Uterine leiomyoma, Lumbar hyperlordosis, Brain a...	OMIM:616482
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Kyphosis, Adrenal hyp...	OMIM:219080
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Scoliosis, Kyphosis	OMIM:301041
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Abnormal curvature of the vertebral column, T...	ORPHA:93360
Thanatophoric Dysplasia Type 1	Platyspondyly, Atrial septal defect, Kyphosis, Abnormal sacroiliac joint morphology	ORPHA:1860
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Fountain Syndrome	Scoliosis, Spina bifida occulta, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3219
2Q31.1 Microdeletion Syndrome	Scoliosis, Vertebral segmentation defect, Ventricular septal defect, Kyphosis, Abnormality of the...	ORPHA:251014
Atypical Werner Syndrome	Hypertriglyceridemia, Delayed puberty, Aortic valve stenosis, Hypogonadism, Mitral valve prolapse...	ORPHA:79474
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Impotence	OMIM:105210
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Mitchell-Riley Syndrome	Annular pancreas, Hyperbilirubinemia, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, D...	OMIM:615710
Pseudoachondroplasia	Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxia...	OMIM:177170
Scapuloperoneal Spinal Muscular Atrophy	Scoliosis, Hyperlordosis, Kyphosis	OMIM:181405
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Delayed puberty, Decreased response to growth hormone stimulation test, Central ...	ORPHA:293987
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, Kyphosis	OMIM:619244
Cole Disease	Abnormal blood phosphate concentration, Hyperglycemia	OMIM:615522
Igg4-Related Kidney Disease	Enlarged kidney, Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy, Elevated ci...	ORPHA:449395
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Small intestine carcinoid, Pulmonic ...	ORPHA:100078
Coffin-Lowry Syndrome	Abnormal aortic valve morphology, Abnormal tricuspid valve morphology, Abnormal form of the verte...	ORPHA:192
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi...	ORPHA:100082
Amyotrophic Lateral Sclerosis 21	Aspiration, Elevated circulating creatine kinase concentration	OMIM:606070
Fanconi-Bickel Syndrome	Hepatomegaly, Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouri...	OMIM:227810
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu...	OMIM:610489
Vocal Cord And Pharyngeal Distal Myopathy	Mildly elevated creatine kinase, Aspiration	ORPHA:600
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lympha...	ORPHA:2136
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Hyperlordosis, Thyroid hypoplasia, Unicornuate uterus, Decreased response ...	OMIM:619503
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Scoliosis, Kyphosis	OMIM:211530
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis	ORPHA:79107
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial ...	OMIM:261740
Kawasaki Disease	Myocarditis, Elevated circulating C-reactive protein concentration, Abnormal heart valve morpholo...	ORPHA:2331
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Splenomegaly, Abnormal pul...	ORPHA:667
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
Mucolipidosis Type Ii	Abnormal aortic valve morphology, Patent foramen ovale, Cardiomyopathy, Kyphosis, Abnormal mitral...	ORPHA:576
Mend Syndrome	Sacral dimple, Kyphosis, Aortic valve stenosis, Abnormal heart morphology, Elevated 8(9)-choleste...	ORPHA:401973
Autosomal Recessive Robinow Syndrome	Hypoplastic female external genitalia, Sacral dimple, Abnormal tricuspid valve morphology, Hypopl...	ORPHA:1507
Hajdu-Cheney Syndrome	Delayed puberty, Hepatomegaly, Hypospadias, Scoliosis, Kyphosis, Aortic valve stenosis, Biconcave...	ORPHA:955
Osteogenesis Imperfecta, Type Iii	Biconcave vertebral bodies, Scoliosis, Kyphosis	OMIM:259420
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis	OMIM:609541
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Telangiectasia, Hereditary Hemorrhagic, Type 2	Polycythemia, Anemia, Brain abscess	OMIM:600376
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc...	ORPHA:2062
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Scoliosis, Kyphosis, Male pseudohermaphroditism, Short neck, ...	ORPHA:140
Dystonia 1, Torsion, Autosomal Dominant	Scoliosis, Hyperlordosis, Kyphosis	OMIM:128100
2P15P16.1 Microdeletion Syndrome	Scoliosis, Kyphosis, Decreased testicular size, Hypogonadism, Supernumerary nipple	ORPHA:261349
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Impaired glucose tolerance, Hyperglyc...	OMIM:248370
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:308552
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypoventilation, Scoliosis, Kyphosis	OMIM:618493
Cleft Larynx, Posterior	Aspiration	OMIM:215800
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P...	ORPHA:79277
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Scoliosis, Hypercholesterolemia, Kyphosis	ORPHA:2479
Marshall-Smith Syndrome	Kyphoscoliosis, Atlantoaxial dislocation, Scoliosis, Thoracic kyphosis, Ventricular septal defect...	OMIM:602535
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I...	OMIM:603546
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cholelithiasis, Scoliosis, Male urethral meatus stenosis, Kyphosis, Atrial septal de...	ORPHA:464738
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Hypospadias, Abnormality of the Leydig cells, Kyphosis, Cryptorchidism, Testicula...	ORPHA:3063
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy, El...	ORPHA:449563
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Koolen-De Vries Syndrome Due To A Point Mutation	Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, Sacral dim...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, Sacral dim...	ORPHA:363958
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Scoliosis, Ventricular septal defect, Kyphosis, Abnormality of the cervical spine, A...	ORPHA:464311
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Patent foramen ovale, Cryptorchidism, Splenic cyst	OMIM:620371
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Annular pancreas, Hypospadias, Hypoplasia of penis...	ORPHA:1606
Marden-Walker Syndrome	Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Hypospadias, Dextroc...	ORPHA:2461
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb...	ORPHA:90038
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis, Mitral valve prolapse	OMIM:177850
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Kyphosis, Hypercalcemia, Complete atrioventricular canal defect	ORPHA:476126
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Elevated circulating parathyroid hormone level, Cervical neoplasm, Pheochromocyto...	ORPHA:653
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Hypothyroidism, Aspiration, Decreased response to growth hormone stimulation test, Panhypopituita...	OMIM:618922
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Alexander Disease	Scoliosis, Hyperlordosis, Kyphosis, Precocious puberty, Hypothyroidism, Short neck, Diabetes mell...	ORPHA:58
Multiple Pterygium Syndrome, Escobar Variant	Absence of labia majora, Anterior clefting of vertebral bodies, Fused cervical vertebrae, Hypospa...	OMIM:265000
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Anemia, Brain abscess	OMIM:187300
Nephroblastoma	Lymphadenopathy	ORPHA:654
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Sacral dimple, Hypospadias, Breast aplasia...	ORPHA:268261
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Rectovaginal fistula, Lymphopenia	OMIM:619708
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Glycosuria, Reduced pancreatic beta cells, Abnormal heart morphology, Hype...	ORPHA:99885
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Abnormal form of the vertebral bod...	ORPHA:904
Pelizaeus-Merzbacher Disease	Scoliosis, Kyphosis	ORPHA:702
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Hyper...	ORPHA:365
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Sacral dimple, Hypospadias, Abnormal form of the vertebral bodies,...	ORPHA:280
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Hypospadias, Anterior pituitary hypoplasia, Scoliosis, Ventricular septal defe...	ORPHA:464306
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of the odontoid p...	OMIM:223800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia, Sclerotic vertebral body, Platyspondyly, Kyphosis	OMIM:618476
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Dysostosis, Stanescu Type	Short neck, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:1798
Bardet-Biedl Syndrome	Hypertriglyceridemia, Hydrometrocolpos, Decreased HDL cholesterol concentration, Impaired fasting...	ORPHA:110
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Thyroiditis, Parotitis,...	ORPHA:289390
Spinocerebellar Ataxia Type 8	Aspiration, Impotence	ORPHA:98760
Neuromuscular Oculoauditory Syndrome	Aspiration, Elevated circulating creatine kinase concentration	OMIM:618733
Schwartz-Jampel Syndrome	Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky...	ORPHA:800
Developmental And Epileptic Encephalopathy 100	Thoracolumbar kyphosis, Aspiration, Scoliosis	OMIM:619777
Cockayne Syndrome A	Hepatomegaly, Thymic hormone decreased, Kyphosis, Splenomegaly, Hypogonadism, Cryptorchidism, Mic...	OMIM:216400
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Abnormal vertebral morphology, Hypospadias...	ORPHA:444077
Halperin-Birk Syndrome	Aspiration, Perimembranous ventricular septal defect	OMIM:618651
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:1005
Weaver Syndrome	Scoliosis, Cryptorchidism, Kyphosis, Hydrocele testis	OMIM:277590
Jaberi-Elahi Syndrome	Scoliosis, Kyphosis	OMIM:617988
Laryngotracheoesophageal Cleft	Aspiration	ORPHA:2004
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormal mitral valve morphology, Scoliosis, Abnormality of the thyroid gland, Kyphosis	ORPHA:1969
Cole-Carpenter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Frank-Ter Haar Syndrome	Kyphoscoliosis, Prominent coccyx, Patent foramen ovale, Kyphosis, Secundum atrial septal defect, ...	OMIM:249420
Tay-Sachs Disease	Aspiration	OMIM:272800
Acromegaly	Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Pituitary growth hormo...	ORPHA:963
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Hypoglycemia, Ventricular septal defect, Polycystic ovaries	ORPHA:137675
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Scoliosis, Hyperlordosis, Kyphosis, Elevated circulating calcitonin concentrati...	OMIM:162300
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617821
Alkaptonuria	Intervertebral disk degeneration, Kyphosis, Mitral valve calcification, Aortic valve calcificatio...	OMIM:203500
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Intervertebral space narrowing, Scoliosis, Ventricular hypertrophy, Tricuspid ste...	OMIM:143095
Oculopharyngodistal Myopathy 1	Aspiration, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hypertrop...	OMIM:164310
Hyperekplexia 1	Aspiration	OMIM:149400
Pancreatoblastoma	Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Scoliosis, Kyphosis	ORPHA:88628
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy	OMIM:619259
Developmental And Epileptic Encephalopathy 38	Aspiration	OMIM:617020
Steinert Myotonic Dystrophy	Decreased fertility, Non-medullary thyroid carcinoma, Decreased response to growth hormone stimul...	ORPHA:273
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Kyphosis	ORPHA:88644
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Spondyloperipheral Dysplasia	Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck	OMIM:271700
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Atrioventricular canal defect, Hypospadias, Hypoplasia of penis, Abnormal f...	ORPHA:818
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Anemia,...	ORPHA:534
Behçet Disease	Lymphadenopathy, Pericarditis, Orchitis, Splenomegaly, Abnormal myocardium morphology, Endocarditis	ORPHA:117
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Aspiration, Ventricular septal defect	OMIM:614653
Somatomammotropinoma	Anterior hypopituitarism, Pituitary growth hormone cell adenoma, Impotence, Hypertrophic cardiomy...	ORPHA:314769
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Kyphosis, Hydroxyprolinemia, Hyperuricemia	OMIM:239000
Lymphangioleiomyomatosis	Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Pulmonary lymphangiomyoma...	ORPHA:538
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Accessory spleen, Abnormal form of the vertebral bodies, Scoliosis, A...	OMIM:194190
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Scoliosis, Cardiomegaly	ORPHA:91387
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ...	OMIM:259770
Monosomy 9Q22.3	Abnormality of the vertebral column, Ovarian fibroma, Kyphosis, Cardiac fibroma, Short neck	ORPHA:77301
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot...	ORPHA:79102
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets	OMIM:208000
Cdags Syndrome	Kyphosis, Hypospadias, Rectovaginal fistula	OMIM:603116
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hypospadias, Aspiration, Patent foramen ovale, Ventricular septal defect, Abnormality of the cerv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hypospadias, Aspiration, Patent foramen ovale, Ventricular septal defect, Abnormality of the cerv...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis, Hyperventilation	OMIM:618050
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Hepato...	OMIM:181000
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, External genital hypoplasia, Hypospadias, Scoliosis, Kyphosis, Cryptorchidism, Hypogo...	ORPHA:2658
Adnp Syndrome	Aspiration, Cryptorchidism	ORPHA:404448
Cockayne Syndrome B	Hepatomegaly, Kyphosis, Splenomegaly, Cryptorchidism, Micropenis	OMIM:133540
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Mitral valve prolapse	OMIM:616914
Cockayne Syndrome	Delayed puberty, Hepatomegaly, Hyperuricemia, Scoliosis, Kyphosis, Absence of pubertal developmen...	ORPHA:191
Scorpion Envenomation	Myocarditis, Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemi...	ORPHA:466677
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Prominent protruding coccyx, Scoliosis, Kyphosis, Prominent coccyx, Short neck	OMIM:300966
Alternating Hemiplegia Of Childhood	Aspiration, Cardiomyopathy	ORPHA:2131
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Aspiration, Patent foramen ovale,...	OMIM:616462
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Abnor...	ORPHA:79078
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Hypospadias, Kyphosis	OMIM:609944
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Tricuspid stenosis, Chronic n...	ORPHA:100079
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Intellectual Developmental Disorder, Autosomal Dominant 73	Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Premature adrenarche, Cryptorchidism...	OMIM:620450
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Atrial septal defect, Premature ovarian insufficiency, Hyperinsulinemia, Seconda...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Atrial septal defect, Premature ovarian insufficiency, Hyperinsulinemia, Seconda...	ORPHA:99228
Monosomy X	Delayed puberty, Atrial septal defect, Premature ovarian insufficiency, Hyperinsulinemia, Seconda...	ORPHA:99226
Turner Syndrome	Delayed puberty, Atrial septal defect, Premature ovarian insufficiency, Hyperinsulinemia, Seconda...	ORPHA:881
Mend Syndrome	Aortic valve stenosis, Sacral dimple, Cryptorchidism, Kyphosis	OMIM:300960
Cockayne Syndrome Type 3	Hepatomegaly, Scoliosis, Cardiomyopathy, Kyphosis, Splenomegaly	ORPHA:90324
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Scoliosis, Kyphosis, Short neck, Cryptorchidism, Supernumerary nipple	OMIM:619194
Malakoplakia	Follicular hyperplasia, Prostate neoplasm, Orchitis, Abnormality of the menstrual cycle	ORPHA:556
Cowden Syndrome	Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Scoliosis, Enlarged p...	ORPHA:201
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly	ORPHA:90340
Bohring-Opitz Syndrome	Cardiomegaly, Annular pancreas, Cholelithiasis, Abnormal cardiac septum morphology	ORPHA:97297
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Neonatal hypoglycemia, Kyphosis, Micropenis, Lumbar hyperlordosis	ORPHA:457359
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Yellow Fever	Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili...	ORPHA:99829
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Aortic valve atresia, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperglycemia, Le...	OMIM:220111
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Familial Osteodysplasia, Anderson Type	Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Hyperuricemia	ORPHA:2769
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Tetralogy of Fallot, Kyphosis	OMIM:153400
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot...	ORPHA:3472
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypertrophic cardiomyopathy, Hyperglycemia, Recurrent hypoglycemia, Hypoglycemia	OMIM:124000
Sotos Syndrome	Neonatal hypoglycemia, Abnormal vertebral morphology, Hypospadias, Phimosis, Scoliosis, Ventricul...	ORPHA:821
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Scoliosis, Elevated circulating creatine kinase concentration, Kyphosis, Platyspo...	OMIM:309000
Neurofibromatosis Type 1	Delayed puberty, Abnormality of the endocrine system, Pheochromocytoma, Scoliosis, Kyphosis, Prec...	ORPHA:636
Osteogenesis Imperfecta	Abnormal endocardium morphology, Vertebral compression fracture, Enlarged vertebral pedicles, Abn...	ORPHA:666
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Congenital hypothyroidism	OMIM:617527
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Abnormal form of the vertebra...	ORPHA:744
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hypospadias, Hyperbilirubinemia, Scoliosis, Bifid scrotum, Kyphosis, Back pain, ...	OMIM:619475
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
African Trypanosomiasis	Myocarditis, Abnormality of renin-angiotensin system, Hepatomegaly, Lymphadenopathy, Abnormality ...	ORPHA:3385
17Q11 Microdeletion Syndrome	Delayed puberty, Elevated circulating parathyroid hormone level, Beaking of vertebral bodies T12-...	ORPHA:97685
Spondyloarthropathy, Susceptibility To, 1	Back pain, Sacroiliac arthritis, Kyphosis	OMIM:106300
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Hyperlipidemia, Kyph...	ORPHA:64
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Scoliosis, Kyphosis	OMIM:619482
Plaa-Associated Neurodevelopmental Disorder	Kyphosis	ORPHA:521426
Zttk Syndrome	Scoliosis, Hemivertebrae, Kyphosis, Absent gallbladder, Atrial septal defect, Ventricular septal ...	OMIM:617140
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Hepatomegaly, Kyphosis	ORPHA:394
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Sacral dimple, Hypospadias, Spina bifida occulta, Scoliosis, Aplasia of the...	OMIM:135900
Bilateral Perisylvian Polymicrogyria	Aspiration, Ectopic posterior pituitary	ORPHA:98889
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hypospadias, Kyphosis	ORPHA:85199
Occipital Horn Syndrome	Platyspondyly, Kyphosis, Decreased circulating ceruloplasmin concentration, Decreased circulating...	OMIM:304150
Cerebrocostomandibular Syndrome	Ventricular septal defect, Kyphosis	ORPHA:1393
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617011
Primrose Syndrome	Delayed puberty, Glucose intolerance, Bilateral cryptorchidism, Cryptorchidism, Hypergonadotropic...	OMIM:259050
Ramon Syndrome	Scoliosis, Enlarged labia minora, Kyphosis	OMIM:266270
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Scoliosis, Kyphosis, Atrial septal dilatation, Cryptorchidism	OMIM:278250
Viss Syndrome	Atrial septal defect, Butterfly vertebrae, Patent foramen ovale, Scoliosis, Coronary sinus enlarg...	OMIM:619472
Cleidocranial Dysplasia 1	Scoliosis, Spondylolysis, Spondylolisthesis, Kyphosis	OMIM:119600
Stickler Syndrome	Spondylolisthesis, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Spinal canal steno...	ORPHA:828
Marfan Syndrome	Tricuspid valve prolapse, Spondylolisthesis, Scoliosis, Kyphosis, Mitral valve calcification, Mit...	ORPHA:558
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Fused cervical vertebrae, Ventricular hypertrophy, Pericardial effusion...	ORPHA:51608
Shprintzen Omphalocele Syndrome	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:182210
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Kyphosis, Platyspondyly, Cryp...	ORPHA:2273
Singleton-Merten Syndrome 1	Scoliosis, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiom...	OMIM:182250
Branchiooculofacial Syndrome	Hypospadias, Hyperlordosis, Kyphosis, Ectopic thymus tissue, Short neck, Cryptorchidism, Supernum...	OMIM:113620
Occipital Horn Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:198
Coffin-Lowry Syndrome	Uterine prolapse, Scoliosis, Lumbar kyphosis, Kyphosis	OMIM:303600
Yunis-Varon Syndrome	Hypospadias, Patent foramen ovale, Hypoplastic nipples, Ventricular septal defect, Absent nipple,...	OMIM:216340
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Spondyloepimetaphyseal Dysplasia, X-Linked	Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondyly, Anterior we...	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

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

MGI Allele	Allele Type	Produced
Fam221a^{tm45213(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fam221a^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Fam221a^{tm45213(L1L2_gt2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Fam221a MGI:2442161

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Fam221a mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data