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Gene: Xrcc5 MGI:104517

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Gene Summary

Name:
X-ray repair complementing defective repair in Chinese hamster cells 5
Synonyms:
Ku86,  Ku80

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased cardiac output Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.38×10-13
abnormal thymus morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
scoliosis Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.16×10-05
small thymus Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart left ventricle morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 6.38×10-19
decreased grip strength Xrcc5em1(IMPC)Ccpcz HOM   Early adult 7.98×10-05
hyperactivity Xrcc5em1(IMPC)Ccpcz HOM   Early adult 5.45×10-07
thin ventricular wall Xrcc5em1(IMPC)Ccpcz HOM Early adult 9.74×10-05
abnormal retina morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 4.79×10-08
abnormal retina blood vessel morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 2.37×10-12
decreased exploration in new environment Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.42×10-07
increased circulating triglyceride level Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.51×10-06
small spleen Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 9.67×10-05
increased red blood cell distribution width Xrcc5em1(IMPC)Ccpcz HOM Early adult 7.17×10-09
increased kidney weight Xrcc5em1(IMPC)Ccpcz HOM Early adult 5.32×10-05
increased mean platelet volume Xrcc5em1(IMPC)Ccpcz HOM Early adult 3.96×10-06
kyphosis Xrcc5em1(IMPC)Ccpcz HOM   Early adult 6.31×10-05
short tibia Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.16×10-24
abnormal auditory brainstem response Xrcc5em1(IMPC)Ccpcz HOM   Early adult 5.59×10-09
decreased locomotor activity Xrcc5em1(IMPC)Ccpcz HOM Early adult 2.47×10-05
male infertility Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spine curvature Xrcc5em1(IMPC)Ccpcz HOM   Early adult 2.09×10-07
increased mean corpuscular hemoglobin Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.96×10-06
decreased heart left ventricle size Xrcc5em1(IMPC)Ccpcz HOM   Early adult 9.80×10-06
aorta stenosis Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.54×10-21
increased thigmotaxis Xrcc5em1(IMPC)Ccpcz HOM Early adult 7.47×10-05
abnormal vertebrae morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 2.21×10-11
abnormal cranium morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 4.58×10-05
abnormal spleen morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
female infertility Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
increased grip strength Xrcc5em1(IMPC)Ccpcz HOM Early adult 3.97×10-07
abnormal testis morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal caudal vertebrae morphology Xrcc5em1(IMPC)Ccpcz HOM   Early adult 6.51×10-12
increased circulating alkaline phosphatase level Xrcc5em1(IMPC)Ccpcz HOM Early adult 4.72×10-16
abnormal zygomatic bone morphology Xrcc5em1(IMPC)Ccpcz HOM Early adult 1.12×10-13
decreased circulating serum albumin level Xrcc5em1(IMPC)Ccpcz HOM   Early adult 5.17×10-05
small testis Xrcc5em1(IMPC)Ccpcz HOM Early adult 0.00
decreased cardiac stroke volume Xrcc5em1(IMPC)Ccpcz HOM Early adult 6.99×10-13

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

34 Images

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X-ray

XRay Images Hind Leg and Hip

34 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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Human diseases caused by Xrcc5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Xrcc5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ... OMIM:269840
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... OMIM:619924
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Immunodeficiency 104
T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells OMIM:618982
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... OMIM:615607
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Cryptorchidis... OMIM:611209
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Takenouchi-Kosaki Syndrome
Low-set ears, Clinodactyly, Overlapping toe, Cryptorchidism, Sensorineural hearing impairment, At... OMIM:616737
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Progressive neurologic deterioration, Type I diabetes mellitus, Arterial stenosis, C... ORPHA:1192
Alg6-Cdg
Hypoalbuminemia, Low-set ears, Increased circulating androgen concentration, Puberty and gonadal ... ORPHA:79320
Pelger-Huet Anomaly
Giant platelets, Short 3rd metacarpal, Upper limb undergrowth, Recurrent otitis media, Short 5th ... OMIM:169400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Niemann-Pick Disease, Type B
Mental deterioration, Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL choleste... OMIM:607616
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, B lymphocytopenia ORPHA:277
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Micropenis, Glomer... OMIM:619487
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Short neck, Abnormal cardiac septum m... ORPHA:3319
Smith-Magenis Syndrome
Hearing impairment, Abnormal middle ear morphology, Pes planus, Retinal detachment, Motor stereot... OMIM:182290
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hypopituitarism, Hepatosplenomegaly, Hepatic steatosis, Arach... OMIM:619013
Immunodeficiency, Common Variable, 4
Abnormal T cell count OMIM:613494
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Short neck, Atrial septal defect, Neutropenia, Hepatomegaly, Neph... OMIM:617303
Sandhoff Disease
Hearing impairment, Cherry red spot of the macula, Congestive heart failure, Progressive psychomo... ORPHA:796
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... OMIM:300400
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Low-set ears, Cholestasis, Elevated circulating creatinine concentration, Decrea... OMIM:608104
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Sensorineural hearing impairment, P... ORPHA:182050
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Congestive he... OMIM:615703
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells OMIM:615767
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, Cryptorchidism, Ve... OMIM:235510
Slc35A2-Cdg
Precocious puberty, Aplasia/hypoplasia involving bones of the extremities, Short tibia, Elevated ... ORPHA:356961
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal thoracic spine morphology, Metrorrhagia, Abnormal spleen morphology,... ORPHA:464329
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Rhizomelia, Short tibia, Sandal gap, Butterfly vertebrae, Hypocalcemia, Patent for... OMIM:607143
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Immunodeficiency 95
Lymphopenia OMIM:619773
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Abnormal heart morphology, Renal insufficiency, Abnormality of t... ORPHA:79327
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Reni Syndrome
Hypoalbuminemia, Ataxia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome... OMIM:617575
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr... OMIM:620632
Immunodeficiency 62
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... OMIM:618459
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 27A
Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femo... OMIM:209950
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Pes cavus, Elevated circulating ... OMIM:208920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Low-set ears, Hip dislocation, Hypocholesterolemia, Splenomegaly, Hepatomegaly, ... OMIM:608776
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Trichohepatoenteric Syndrome 1
Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Cognitive impairment, Hepatomega... OMIM:222470
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Rod-cone dystrophy, Ataxia, Hepatomegaly, Nephrotic syndrome, Premature ovaria... OMIM:212065
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Loss... OMIM:616516
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Delirium, Restlessness, Mania, Hypopro... ORPHA:247585
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Smith-Magenis Syndrome
Toe syndactyly, Abnormality of the ureter, Micrognathia, Renal hypoplasia/aplasia, Delayed erupti... ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Cryptorchidism, Cognitive impairment... OMIM:301310
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... OMIM:613179
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morphology, Arrhythmi... ORPHA:85443
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Fibular Hemimelia
Toe syndactyly, Short tibia, Limited knee flexion/extension, Finger syndactyly, Difficulty walkin... ORPHA:93323
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Total anomalous pulmonary venous return, Unilateral renal agenesis, Dental maloccl... ORPHA:487796
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, ... OMIM:618805
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality OMIM:300518
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Talipes equinovarus, Cir... ORPHA:14
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul... OMIM:616050
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly ORPHA:100024
Immunodeficiency 102
Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells... OMIM:301082
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... OMIM:210250
Spastic Paraplegia 18B, Autosomal Recessive
Inability to walk, Pes cavus, Ankle clonus, Gait disturbance, Scoliosis, Kyphosis OMIM:611225
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Scoliosis, Abnormal circulating creatine kinase concentration, Sensori... OMIM:617519
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells OMIM:616098
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... ORPHA:84064
Temple Syndrome
Precocious puberty, Small hand, Clinodactyly, Maturity-onset diabetes of the young, Recurrent oti... OMIM:616222
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Talipes equinovar... OMIM:601382
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen... OMIM:308240
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Cone/cone-rod dystrophy... OMIM:203800
Alg12-Cdg
Biventricular hypertrophy, Overlapping fingers, Micrognathia, Cryptorchidism, Sensorineural heari... ORPHA:79324
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic ovar... ORPHA:79083
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Mental deterioration, Hyperactivity, Hypertriglyceridemia, Hepatomegaly OMIM:615924
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatome... ORPHA:507
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Widely ... OMIM:301900
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Micrognathia, Cryptorchidism, Hepatic steatosis, Sensorineural hearing impairm... OMIM:615381
Immunodeficiency 44
Lymphopenia OMIM:616636
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Mandibular prognathia, Platelet anisocytosis, Hearing impairment, Overlapping toe, Thrombocytopen... OMIM:620475
Smith-Lemli-Opitz Syndrome
Low-set ears, Small scrotum, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis med... OMIM:270400
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... ORPHA:64743
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology OMIM:616910
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ... OMIM:616860
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Increased circulating creatine kinase MM iso... OMIM:613752
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hyporeflexia of lo... ORPHA:98855
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased response to growth hormone stimula... OMIM:618347
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Neutr... OMIM:607594
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c... OMIM:616730
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Progressive sensorineural hearing impairment, Enamel hypomineralization, Iron deficiency anemia, ... ORPHA:494444
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Hearing impairment, Difficulty walking, Pes cavus, Talipes equinovarus, Optic disc... OMIM:617087
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Low-set ears, Increased size of the mandible, Hydronephrosis, Thrombocytopenia, Patent ductus art... OMIM:300048
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Lumbar hyperlordosis, ... OMIM:249700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis, Decreased HDL cholesterol conce... OMIM:604091
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Type II diabe... OMIM:610947
Tangier Disease
Atherosclerosis, Facial diplegia, Splenomegaly, Hypertriglyceridemia, Coronary artery atheroscler... OMIM:205400
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Lymphedema, Primary, With Myelodysplasia
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatic ste... ORPHA:2348
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly OMIM:620282
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Pes cavus, Hip contracture, Elevated circulating creatine kinase ... OMIM:615290
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Atrioventricular block, Tip-toe gait, Hypertrophic cardiomyopathy, Ventricular e... ORPHA:98863
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Hypertrophic cardi... ORPHA:98853
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Decreased motor nerve conduction velocity, Pes cavus, Steppage gait, Hypercholes... OMIM:607250
N Syndrome
Abnormality of chromosome stability OMIM:310465
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Fanconi Anemia, Complementation Group O
Chromosome breakage, Neonatal death OMIM:613390
Mirage Syndrome
Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Talipes equinovarus, Hyperkal... OMIM:617053
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Calf muscle hypertroph... ORPHA:280356
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Wolcott-Rallison Syndrome
Hypoalbuminemia, Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hy... ORPHA:1667
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Retrognathia, Abnormal foot morphology, Abnormal heart morphology, Micrognathia, Cr... ORPHA:352490
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Focal EEG discharges with secon... ORPHA:3077
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Ventricular hypertrophy, Hyperplasia of the maxilla, Difficulty walking, Mitral reg... OMIM:300280
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... OMIM:616959
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bo... ORPHA:1106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Cherry red spot of the macula, Pes cavus, Splenomegaly, Fo... OMIM:230650
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hearing impairment, Stage 5 chronic kidney d... OMIM:618349
Femoral-Facial Syndrome
Low-set ears, Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Renal hypoplasia/apl... ORPHA:1988
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Stuve-Wiedemann Syndrome 1
Low-set ears, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing ... OMIM:601559
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Prader-Willi Syndrome
Small scrotum, Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II di... OMIM:176270
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Small hand, Hip dislocation, Bruxism, Talipes equinovarus, Hyperactivity, Short foot, Scoliosis, ... OMIM:300434
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype... ORPHA:84090
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Hip dislocation, Inability to walk, Lumbar hyperlordosis, Sensorineural hearing... OMIM:616756
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Jaundice, Shock, Eleva... ORPHA:99826
Horizontal Gaze Palsy With Progressive Scoliosis
Sensorineural hearing impairment, Short neck, Cognitive impairment, Scoliosis, Kyphosis ORPHA:2744
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Foam cells, Proteinuria, Hypertrigl... OMIM:245900
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Mandibular prognathia, Kyphosis, Sandal gap, Hypogonadism, Decreased testicular size,... OMIM:300354
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Hepatomeg... OMIM:226300
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A... ORPHA:292
Cockayne Syndrome Type 1
Hearing impairment, Difficulty walking, Cryptorchidism, Delayed eruption of primary teeth, Ataxia... ORPHA:90321
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Cdkl5-Deficiency Disorder
Broad proximal phalanges of the hand, Difficulty walking, Bruxism, Inappropriate laughter, Stereo... ORPHA:505652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Pes cavus, Distal lower limb muscle weakness, Steppage gait, Hypercholesterolemi... ORPHA:94124
Burkitt Lymphoma
Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells ORPHA:543
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Retrognathia, Micrognathia, 3-Methylglutaconic aciduria, Anisocy... OMIM:604273
Xfe Progeroid Syndrome
Hypoalbuminemia, Optic atrophy, Hearing impairment, Attenuation of retinal blood vessels, Renal i... OMIM:610965
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Hemochromatosis, Type 3
Anemia, Lymphopenia, Neutropenia OMIM:604250
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Hand clenching, Retrognathia, Difficulty walking, Inability to walk, Micrognathia, ... OMIM:611890
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal... OMIM:619902
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Short neck, Hyperlord... OMIM:300718
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Hydroureter, Hearing impairment, Cardiomyopathy, Limited m... OMIM:222300
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Cockayne Syndrome A
Carious teeth, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip contracture, Senso... OMIM:216400
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Cryptorchidism, Skin-picking, Aggressive behavior, Prolonged neonatal ja... OMIM:618512
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Scoliosis, Kyphosis OMIM:168400
Gm1 Gangliosidosis
Low-set ears, Cherry red spot of the macula, Hepatosplenomegaly, Abnormal scrotum morphology, Ora... ORPHA:354
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B... OMIM:619705
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic ... ORPHA:1354
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Ataxia, Abnormal auditory evoked potentials, Os odontoideum, Irregular epiphyses, Attenuation of ... OMIM:619260
Acromesomelic Dysplasia, Maroteaux Type
Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones... ORPHA:40
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Talipes equinovarus, Congenital bilateral hip dislocation, Hyperactivi... ORPHA:85288
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Micrognathia, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Hepatomegaly, Atherosclerosis,... ORPHA:280365
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... OMIM:226990
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hyperchole... OMIM:612526
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Short 5th finger, Microretrognathia, Sandal gap, Short tibia, Short thumb... ORPHA:1972
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... ORPHA:3287
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Immunodeficiency 114, Folate-Responsive
Carious teeth, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megalobla... OMIM:620603
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Micrognathia, Hepatic steatosis, Retinal detachment, Hypertr... ORPHA:436182
Glycogen Storage Disease Vi
Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H... OMIM:232700
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Increased LD... OMIM:278000
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc... ORPHA:540
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short thumb, Overlapping toe, Arrhythmia, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis OMIM:618453
Schaaf-Yang Syndrome
Low-set ears, Small hand, Rocker bottom foot, Mandibular prognathia, Clinodactyly, Retrognathia, ... OMIM:615547
19P13.12 Microdeletion Syndrome
Low-set ears, Finger syndactyly, Cryptorchidism, Mitral regurgitation, Ventricular septal defect,... ORPHA:254346
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Camurati-Engelmann Disease
Carious teeth, Hearing impairment, Abnormal tibia morphology, Genu valgum, Pes planus, Metaphysea... ORPHA:1328
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal tibia morphology, Abnormal retinal vascular morphology... ORPHA:909
H Syndrome
Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Pes planus, Abnormality of the kidney,... ORPHA:168569
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Short toe, Decreased testicular size, Hyperinsulinemia, Type II diabetes me... ORPHA:3085
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Fetal Akinesia Deformation Sequence 4
Low-set ears, Retrognathia, 11 pairs of ribs, Micrognathia, Cryptorchidism, Short neck, Camptodac... OMIM:618393
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Progressive psychomotor deterioration, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... ORPHA:363400
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing,... OMIM:620076
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 54
Chromosome breakage OMIM:609981
Immunodeficiency 9
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count OMIM:612782
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Sensorineural hearing impairment, ... ORPHA:3320
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Flattened proximal r... OMIM:271530
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Elevated circulating creatine kinase concentration, Knee flexion contracture, Ta... OMIM:600175
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Le... OMIM:306955
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Seckel Syndrome 10
Acute pancreatitis, Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Cone... OMIM:617253
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Micrognathia, Cryptorchidism, Mitral valve prolap... ORPHA:536532
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Splenomegaly, Bradycardia, Elevated circulating creatine kinase concentration, ... OMIM:613327
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepat... ORPHA:264580
Myofibrillar Myopathy 10
Ankle flexion contracture, Mandibular prognathia, Increased QRS voltage, Sandal gap, Knee flexion... OMIM:619040
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Nephrotic Syndrome, Type 9
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Lipid accumulation in hepatocytes, Arrhythmia, Hepatomegaly, Macrovesicular hepatic... OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... ORPHA:567548
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Low-set ears, Aplasia/Hypoplasia of the earlobes, Abnormal female external genitalia morphology, ... ORPHA:2637
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Selective Igm Deficiency
Decreased proportion of transitional B cells, Cutaneous abscess, Decreased proportion of CD8-posi... ORPHA:331235
Bardet-Biedl Syndrome
Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Hearing impairment, Finger synd... ORPHA:110
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Elevated circulating creatine kinase concentration, Gait disturbance, Hyperlordosis... OMIM:617404
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Proteinuria, Polyphagia... ORPHA:251004
Meckel Syndrome, Type 8
Low-set ears, Hyperechogenic kidneys, Polydactyly, Talipes equinovarus, Short neck, Ambiguous gen... OMIM:613885
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Mesomelia, Hepatic fibrosis, Postaxial polysyndactyly of... OMIM:263520
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protei... ORPHA:2070
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Conductive hearing impairment, Hearing impairment, P... ORPHA:244
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Telangiectasia, Abnormal retinal vascular morphology, Retinal neovascularization, Gl... ORPHA:247691
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Hearing impairment, Hypertrophic cardiomyopathy, Irritability, Kyphosis OMIM:618237
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Hearing impairment, Short tibia, Radial club hand, Cutaneous finge... ORPHA:93322
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Ogden Syndrome
Low-set ears, Recurrent otitis media, Torsade de pointes, Hyperbilirubinemia, Micrognathia, Crypt... OMIM:300855
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... OMIM:615382
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Short nec... ORPHA:1830
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... ORPHA:86839
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemi... ORPHA:247598
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Bethlem Myopathy 2
Hip dislocation, Scoliosis, Kyphosis, Elevated circulating creatine kinase concentration OMIM:616471
Ck Syndrome
Retrognathia, Micrognathia, Irritability, Abnormal digit morphology, Aggressive behavior, Hyperlo... OMIM:300831
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Growth delay OMIM:278780
Whim Syndrome 1
Neutropenia OMIM:193670
Mogs-Cdg
Optic atrophy, Retrognathia, Hepatosplenomegaly, External genital hypoplasia, Overlapping fingers... ORPHA:79330
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Mucopolysaccharidosis Type 2
Mental deterioration, Abnormal mitral valve morphology, Sensorineural hearing impairment, Arrhyth... ORPHA:580
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou... ORPHA:274
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude, Dysphagia, Scoliosis, Kyphosis, Spinal rigi... OMIM:618323
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Proteinuria, Nephrotic syndrome OMIM:614652
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Diaphanospondylodysostosis
Low-set ears, Unossified sacrum, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Microgn... OMIM:608022
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hypotension, Hepatitis, Recurrent urinary tract infections, Shock, Elevated circ... ORPHA:36234
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O... ORPHA:470
Ruvalcaba Syndrome