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Gene: Pld4 MGI:2144765

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Gene Summary

Name:
phospholipase D family member 4
Synonyms:
thss

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
increased leukocyte cell number Pld4em1(IMPC)Mbp HOM Early adult 6.71×10-05
corneal opacity Pld4em1(IMPC)Mbp HOM Early adult 6.50×10-12
increased monocyte cell number Pld4em1(IMPC)Mbp HOM Early adult 4.63×10-10
abnormal spleen morphology Pld4em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Pld4em1(IMPC)Mbp HOM Early adult 0.00
increased spleen weight Pld4em1(IMPC)Mbp HOM Early adult 2.13×10-06
decreased circulating calcium level Pld4em1(IMPC)Mbp HOM Early adult 6.84×10-07
eye hemorrhage Pld4em1(IMPC)Mbp HOM   Early adult 3.48×10-05

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Viewing: all phenotypes

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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Pld4 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 Pld4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Autoimmunity, Absence of lymph node germinal center, Anti-thyroid peroxidase a... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... ORPHA:169154
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Antinuc... OMIM:618048
Immunodeficiency 27A
Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increase... OMIM:209950
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal... ORPHA:98813
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Autoimmunity, Splenomegaly, Lymphad... OMIM:618495
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody l... ORPHA:397596
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... OMIM:615767
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 15B
Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod... OMIM:615592
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased ... OMIM:616005
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Decreased circulating total IgM, Monocytosis, B lymphocytopenia, Thro... OMIM:619281
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... OMIM:300400
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Failure to thrive, Antiphospholipid antibody positivity, Rheumatoi... OMIM:615934
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade... ORPHA:100024
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increa... OMIM:304790
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... OMIM:617099
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... ORPHA:3261
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity, Subcutaneous hemorrhage, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Plasmacytosis, Increased circulating antibody le... OMIM:247800
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating... OMIM:618394
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu... OMIM:269840
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Lymph... OMIM:240500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Hepatomegaly, Abnormal imm... ORPHA:276
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... OMIM:603552
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Immunodeficiency 11A
Agammaglobulinemia, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... OMIM:615206
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Corneal opacity, Splenome... ORPHA:79292
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, ... ORPHA:83313
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytop... OMIM:102700
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu... OMIM:613101
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Nail dystrophy OMIM:270300
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Brittle hair, Increased circulating IgA level, Abdominal adhesions, Neutropenia, Tig... OMIM:616395
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Griscelli Syndrome, Type 2
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin... OMIM:607624
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... OMIM:260920
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... OMIM:619644
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Decreased circulating total IgM, T lymphocytopenia, De... OMIM:619510
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss ORPHA:2902
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, Gl... ORPHA:2137
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Netherton Syndrome
Decreased circulating IgG level, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyeb... OMIM:256500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Weight loss,... ORPHA:29073
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Hepatomegaly, Corneal opacity ORPHA:2432
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopeni... OMIM:613011
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy ORPHA:89843
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmun... ORPHA:555905
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level, Long eyelashes OMIM:616069
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... ORPHA:507
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneo... OMIM:618282
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Rheumatoid factor ... OMIM:615816
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia ORPHA:721
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Mono... ORPHA:91139
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Synophrys, Low anterior hairline, Hirs... OMIM:617303
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficiency anemia... ORPHA:37042
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Immunodeficiency 22
Failure to thrive, Abscess, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Asci... OMIM:615758
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced natural killer cel... OMIM:242860
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Insulin-Resistance Syndrome Type B
Alopecia, Enlarged ovaries, Proteinuria, Abnormality of body weight, Decreased circulating comple... ORPHA:2298
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level ORPHA:343
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ... OMIM:613179
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal... ORPHA:449432
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... ORPHA:90280
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... ORPHA:33355
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... ORPHA:158061
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... OMIM:613496
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... OMIM:300635
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Weight loss, Increase... ORPHA:411593
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, In... ORPHA:634
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys... ORPHA:464329
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Increased circulating ferritin concentratio... OMIM:613313
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Autoimmunity, Decreased proportion of CD3-positive T cells, Fail... ORPHA:275
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystro... ORPHA:3162
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Nephr... OMIM:215250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy ORPHA:93476
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level, Paronychia, Onychogryposis OMIM:614328
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Dermoids Of Cornea
Corneal opacity OMIM:304730
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased... OMIM:300861
Prolidase Deficiency
Hepatomegaly, Hyperimidodipeptiduria, Splenomegaly, Low posterior hairline, Anemia, Systemic lupu... OMIM:170100
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal ... ORPHA:79078
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Failure to thrive, Chronic neutropenia, Generalized ly... OMIM:614700
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Immunodeficiency 96
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ... OMIM:619774
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... OMIM:608184
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Jaundice, Micronodular c... OMIM:301045
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... OMIM:617718
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... ORPHA:31824
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia ORPHA:295
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci... ORPHA:90362
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Sterile pyuria, Increased circulating IgG level, Tubul... ORPHA:449395
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Aniridia, Hypoplastic spleen, Ascites OMIM:602361
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... OMIM:601457
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter, Obesity ORPHA:3409
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Neoplasm of the liver, Hypertension, Internal h... ORPHA:69077
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ... ORPHA:47
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Abnormal left ventricular function, Hypocalcemic seizures, Conju... ORPHA:36913
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Cataract ORPHA:79238
Tempi Syndrome
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto... OMIM:612840
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... OMIM:300755
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B l... OMIM:618108
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:300310
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Abnormal hair morphology, Paronychia, Increased circulating IgE level, Dystrophic f... ORPHA:2314
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Developmental cataract, Lacunar stroke, Hypocalcemia OMIM:618440
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Small for gestational age, Rheumat... ORPHA:1304
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc... OMIM:275350
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Lead Poisoning
Small for gestational age, Increased circulating IgE level, Chronic kidney disease, Imbalanced he... ORPHA:330015
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... OMIM:620010
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Galactosialidosis
Corneal opacity ORPHA:351
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Bone marrow hypoce... OMIM:619767
Blue Diaper Syndrome
Abnormal abdomen morphology, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Pancreatitis, Anemia ORPHA:79312
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Increased circulating ferritin co... ORPHA:210136
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Lymphad... OMIM:615387
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Decreased circulating antibody level, Premature graying of... ORPHA:100
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhosis, In... ORPHA:101028
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Increased circulati... OMIM:602390
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94090
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunoneurologic Disorder, X-Linked
Small for gestational age, Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary tra... ORPHA:79301
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmunity, Hashimoto thyroiditis, Autoimmune thr... ORPHA:331235
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ant... OMIM:617591
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Corneal opacity, Thrombocytopenia, Splenomegaly, Jaundice, Aplasia/Hypopl... ORPHA:290
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Hyphema, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Thick hair, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly... ORPHA:505248
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia ORPHA:289916
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... ORPHA:88
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Ascites, Corneal opacity ORPHA:87876
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatitis, Anemia ORPHA:27
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Port... ORPHA:171
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Chronic hepatitis due to cryptosporidium... ORPHA:572
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... OMIM:605309
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis, Anti-thyroid peroxidase antibody positivity, Decreased circulati... OMIM:615577
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Hepatic bridg... OMIM:300972
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Conjunctival hyp... ORPHA:99826
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia ORPHA:108
Familial Isolated Hypoparathyroidism
Arrhythmia, Cataract, Hypocalcemia ORPHA:2238
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Decreased circulating antibody level, Sparse hair, Sparse body hair,... ORPHA:1006
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha... OMIM:619858
Roifman Syndrome
Eosinophilia, Hyperconvex nail, Prominent eyelashes, Hepatosplenomegaly, Decreased circulating an... ORPHA:353298
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Bradycardia... OMIM:601005
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... OMIM:615952
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Hyp... OMIM:619750
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... ORPHA:540
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Retinal Capillary Malformation
Vitreous hemorrhage, Hyphema ORPHA:71213
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:614727
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Sandhoff Disease
Splenomegaly, Congestive heart failure, Hepatomegaly ORPHA:796
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of ... ORPHA:86839
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Lujo Hemorrhagic Fever
Shock, Elevated circulating C-reactive protein concentration, Excessive bleeding after a venipunc... ORPHA:319213
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o... ORPHA:400
Q Fever
Hepatomegaly, Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin I... ORPHA:781
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Mogs-Cdg
Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Hirsutism, Hepatosplenomegaly, Decreased circula... ORPHA:79330
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... ORPHA:229717
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Alopecia, Sparse eyelashes, Decreased circulating total IgM, Nai... OMIM:620040
Postinfectious Vasculitis
Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Rheum... ORPHA:48435
Morquio Syndrome C
Corneal opacity OMIM:252300
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Abnormal immunoglobulin level ORPHA:90159
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Autoimmunity, Portal hypertension, Hype... OMIM:613385
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp... OMIM:618892
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L... ORPHA:33226
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy, Proteinuria ORPHA:69126
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Perianal abscess, Sple... OMIM:618935
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Winchester Syndrome
Corneal opacity OMIM:277950
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated circulating ... ORPHA:340
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Lambert Syndrome
Hypospadias, Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody ... ORPHA:1296
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Paraproteinemia, Chronic kid... ORPHA:329918
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Omenn Syndrome
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis... ORPHA:39041
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Igg4-Related Ophthalmic Disease
Cholangitis, Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Antinuclea... ORPHA:449563
Dyskeratosis Congenita, Autosomal Recessive 5
Nail dystrophy, Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Lassa Fever
Increased circulating IgM level, Jaundice, Oliguria ORPHA:99824
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia OMIM:617913
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... OMIM:618886
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Failure to thrive, Increased circulating IgE level OMIM:615508
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... OMIM:235255
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Abnormal hair morphology, Acute ... OMIM:208900
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormal lym... ORPHA:543
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria... ORPHA:77259
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated circulating creatine kinase concentrat... ORPHA:26793
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Abnormalit... ORPHA:2584
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Abscess, Myocarditis, Per... ORPHA:36234
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, ... ORPHA:449427
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Fluctuating splen... OMIM:610377
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... ORPHA:1655
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration, Right ventric... ORPHA:353
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Decrea... ORPHA:1572
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Functional abnormality of the bladder ORPHA:2571
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension OMIM:121300
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Thymoma
Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physi... ORPHA:99867
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Phacoanaphylactic Uveitis
Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Hyphema, Retinal a... ORPHA:209959
Coccidioidomycosis
Renal insufficiency, Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopath... ORPHA:228123
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:93474
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... ORPHA:2930
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Developmental cataract ORPHA:557003
Xq28 (MECP2) duplication
Failure to thrive, Functional abnormality of the bladder, Decreased circulating IgA level DECIPHER:45
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, ... OMIM:269920
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Failure to thrive, Panhypogammaglobulinemia ORPHA:251009
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Cataract, Hypocalcemia, Hyperphosphatemia OMIM:612462
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity ORPHA:391
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperam... ORPHA:292
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration, Abnormality of the hepatic vascu... ORPHA:275555
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Alpha-Mannosidosis
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity ORPHA:61
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increased mean platelet v... OMIM:222470
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Rift Valley Fever
Jaundice, Hepatitis, Hematuria, Increased circulating IgG level, Increased circulating IgM level,... ORPHA:319251
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, P... OMIM:251000
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Alopecia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune throm... ORPHA:227990
Dengue Fever
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hereditary Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... ORPHA:30
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly ORPHA:309288
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... OMIM:618815
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Conjunctival icterus, Splenomegaly, Jaundice, Increased mean corpu... OMIM:194380
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Synophrys, Hypertrichosis, Decreased circulating antibody level ORPHA:85317
Amyloidosis, Familial Visceral
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly OMIM:105200
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Wilson Disease
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Kayser-Fleischer ring, Cirrhos... ORPHA:905
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus, N... OMIM:245900
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Aplasia/Hypoplasia of the thymus ORPHA:3426
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating IgG1, Micropenis, ... OMIM:300953
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimmune antibody positi... ORPHA:90003
Myeloma, Multiple
Paraproteinemia OMIM:254500
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Smith-Kingsmore Syndrome
Curly hair, Large for gestational age, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Unilateral renal agenesis, Abnormal T... ORPHA:221139
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Mucolipidosis Iv
Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma OMIM:252650
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ... ORPHA:125
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Autoimmu... OMIM:243150
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Alopecia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune throm... ORPHA:227982
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardiomyopathy, Mitral regurgitat... ORPHA:746
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Cardiac arrest ORPHA:77260
Galactosialidosis
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Vitreoretinochoroidopathy
Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhage, Retinal neovascul... OMIM:193220
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hyp... ORPHA:94089
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorrhage, He... ORPHA:509
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Hypoplasia of penis, Obesity, Micropenis ORPHA:85274
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo... ORPHA:169105
Felty Syndrome
Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypoc... ORPHA:47612
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... ORPHA:650
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Pneumocystosis
Weight loss, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... OMIM:153670
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... ORPHA:398124
Mevalonic Aciduria
Splenomegaly, Cataract ORPHA:29
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, E... OMIM:620005
Exudative Vitreoretinopathy 4
Vitreous hemorrhage, Subcapsular cataract OMIM:601813
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Corneal opacity, Splenomegaly, Mitral regurgitation, Pulmonar... OMIM:607015
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Poems Syndrome
Leukonychia, Weight loss, Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, ... ORPHA:2905
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Developmental cataract, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Adamantinoma
Hypercalcemia ORPHA:55881
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count OMIM:609981
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension OMIM:620365
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Abnormal immunoglobuli... OMIM:242900
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Purpura OMIM:254450
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Failure to thrive, Hepatic steatosis, Hirsutism, Decreased circulatin... OMIM:613327
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... OMIM:251110
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Vitreous hemorrhage, Leukemia, Hyp... ORPHA:790
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Paronychia, Alopecia of scalp, Failure to t... OMIM:201100
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb... OMIM:616433
Cog4-Cdg
Hypercholesterolemia, Cirrhosis, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Long eyelashes, Sparse hair, Micropenis ORPHA:3363
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Hypophosp... ORPHA:411634
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... ORPHA:829
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Liver abscess, Cholangitis, Autoimmunity, Recurrent tonsillitis, Systemic lupus ... ORPHA:183675
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, De... OMIM:614576
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Propionic Acidemia
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Pancr... OMIM:606054
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anisocytosis, Cardiomegaly, M... OMIM:618278
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive OMIM:616353
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... OMIM:614857
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:607115
Congenital Sialidosis Type 2
Abnormal EKG, Hepatomegaly, Cataract, Corneal opacity, Developmental cataract, Telangiectasia, He... ORPHA:93400
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia ORPHA:99845
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... ORPHA:31150
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia ORPHA:79402
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal... ORPHA:3318
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ... OMIM:127550
Neuraminidase Deficiency
Hepatomegaly, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... OMIM:256550
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, ... OMIM:618183
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization OMIM:193235
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Pulmonic stenosis,... ORPHA:2414
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Hypocalcemia, Thrombocytosis OMIM:212750
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Increased circulating ferriti... OMIM:235200
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Nail dystrophy... OMIM:618165
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... ORPHA:520
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Pulmonary arterial h... ORPHA:667
Caffey Disease
Increased circulating antibody level ORPHA:1310
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia, Bone marrow hypocellularity, Cirrhosis OMIM:613987
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio... OMIM:230800
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S... OMIM:619381
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Acute leukemia ORPHA:281090
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... OMIM:251880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Hypertrichosis, Decreased circulating total I... OMIM:210900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Sialidosis Type 1
Splenomegaly, Cataract, Corneal opacity ORPHA:812
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Alg12-Cdg
Hypospadias, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib)... ORPHA:79324
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Cryoglobulinemic Vasculitis
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Circulating immune complexes, Sp... ORPHA:91138
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Hypospadias, Decreased circulating antibody level OMIM:616910
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines,... OMIM:612132
Yellow Fever
Increased circulating interleukin 6 concentration, Anuria, Renal insufficiency, Neutrophilia, Acu... ORPHA:99829
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Hepatoblastoma, ... ORPHA:84064
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis OMIM:616719
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hepatic calcification, Hy... ORPHA:73224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Cataract, Corneal opacity, Elevated circulating creatine kinase con... OMIM:613153
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly, Visceromegaly ORPHA:93399
Cholera
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... ORPHA:173
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... OMIM:608104
Schimke Immuno-Osseous Dysplasia
Corneal opacity, Transient ischemic attack, Congestive heart failure, Thrombocytopenia, Hyperlipi... ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Long eyelashes, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... ORPHA:1451
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Hypopigmentation of hair, Left v... OMIM:242840
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... OMIM:606003
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Ascites, Hypocalcemia, Lymphangioma, L... ORPHA:2136
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity ORPHA:585
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypopl... ORPHA:1133
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... ORPHA:94080
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Sparse body hair ORPHA:261483
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Uncombable hair, Cirrho... OMIM:614602
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Eales Disease
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Iris neovascularizat... ORPHA:40923
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Decreased circulating ... OMIM:248500
Trichothiodystrophy 1, Photosensitive
Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy,... OMIM:601675
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Fair hair, Reduced natural killer cell activity, Al... OMIM:608233
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Subcapsular cataract, Retinal neovascularization OMIM:133780
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Failure to thrive, Hepatomegaly OMIM:228000
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ... ORPHA:2118
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:2785
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Thick hair, Splenomegaly, Cirrhosis, Failure to thrive OMIM:613489
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge... OMIM:613812
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombocytopenia ORPHA:391673
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lupus anticoagulant,... OMIM:615688
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hyp... ORPHA:79444
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Chylous ascites, Decreased circulating antibody l... ORPHA:90363
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Myocarditis, Leukocytosis, Thrombocytopenia, Hyper... ORPHA:544482
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... OMIM:619991
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... OMIM:222700
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:480520
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E... ORPHA:160
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... OMIM:274150
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H... ORPHA:470
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Cataract, Band keratopathy, Hypertension, Hyperphosphatemia, C... ORPHA:79443
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Curly hair, Hypospadias, Decreased circulating IgA level ORPHA:457485
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Corneal opacity OMIM:607016
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Decreased circulat... ORPHA:79329
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract OMIM:617183
Riddle Syndrome
Generalized lymphadenopathy, Enuresis nocturna, Weight loss, Decreased circulating total IgM, Dec... ORPHA:420741
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycin... OMIM:251100
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Atypical or prolonged... ORPHA:83471
Isotretinoin-Like Syndrome
Aortic valve stenosis, Lymphopenia, Hypocalcemia ORPHA:2306
Autosomal Agammaglobulinemia
Agammaglobulinemia, Failure to thrive, Hepatitis, Neutropenia ORPHA:33110
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypospadias, Small for gestational age, Decreased circulating total IgM, Micro... OMIM:607143
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyp... ORPHA:466650
Joubert Syndrome 33
Splenomegaly OMIM:617767
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... OMIM:613989
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma, Mitr... OMIM:231005
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia ORPHA:99745
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Failure to thrive, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopath... OMIM:212065
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Macular telangiectasia, Cataract, Retinal neovascularization ORPHA:891
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia ORPHA:428
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Alopecia, Alopecia totalis, Autoimmune thrombocytope... ORPHA:293978
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hyperechogenic pancreas, Pancreatic steato... OMIM:617052
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Corneal opacity, Elevated circulating creatine kinase concentration, Abnormal left ... OMIM:301056
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyper... OMIM:277380
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating a... ORPHA:77261
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Corneal opacity, Hepatitis ORPHA:584
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia OMIM:235555
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... ORPHA:31826
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse h... OMIM:252920
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive ... ORPHA:90051
Trichinellosis
Increased circulating IgE level ORPHA:863
Cystinosis
Hypokalemia, Corneal opacity, Portal hypertension, Hypophosphatemia ORPHA:213
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Heart murmur, Intracranial hemorrhage, Anemia, Hypocalcemia, Hyperbilirubinem... ORPHA:163979
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Proteinuria, Autoimmunity, Splenomegaly, Lymphadenopathy, Hema... ORPHA:36412
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Sengers Syndrome
Thrombocytopenia OMIM:212350
Thymic Neuroendocrine Tumor
Hypercalcemia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of ... ORPHA:97289
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chroni... ORPHA:90033
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Pseudo-Torch Syndrome 1
Hepatomegaly, Cataract, Petechiae, Splenomegaly, Jaundice, Opacification of the corneal stroma, T... OMIM:251290
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Mirage Syndrome
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Gitelman Syndrome
Prolonged QT interval, Neoplasm of the pancreas, Raynaud phenomenon, Hypomagnesemia, Hypermagnese... ORPHA:358
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair OMIM:618625
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract... OMIM:171300
Cartilage-Hair Hypoplasia
Hepatomegaly, Heart block, Abnormality of the pancreas, Cardiomyopathy, Hypocalcemia, Neutropenia... ORPHA:175
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... ORPHA:71493
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Overlap Myositis
Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen... ORPHA:206572
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia ORPHA:79242
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Corneal opacity OMIM:272200
Hypophosphatasia, Infantile
Intracranial hemorrhage, Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Corneal opacity OMIM:166300
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernai... ORPHA:1775
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration OMIM:301054
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Abnormality of complement system, Pancreatitis, Abnormality of the na... ORPHA:2348
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Hepatospleno... OMIM:607014
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Congestive heart... OMIM:615895
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Majeed Syndrome
Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic anemia, Splenomega... ORPHA:77297
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity... ORPHA:536
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Sparse hair, Neutropenia OMIM:618253
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Prolonged prothrombin time, He... OMIM:618641
Familial Dysautonomia
Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opaci... ORPHA:1764
Farber Disease
Corneal opacity, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Hepatosplenom... ORPHA:333
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Atelis Syndrome 2
Thrombocytopenia, Supravalvar pulmonary stenosis, Developmental cataract, Vitreous hemorrhage, Pu... OMIM:620185
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Cataract, Abnormality of the tonsils, Thrombocytopenia, Splenomegaly... ORPHA:567
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, ... ORPHA:2070
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... OMIM:608885
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno... OMIM:181000
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Hepatic Lipase Deficiency
Hypertriglyceridemia, Angina pectoris, Corneal arcus, Increased HDL cholesterol concentration, Hy... OMIM:614025
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ... ORPHA:549
Aredyld
Generalized hypotrichosis OMIM:207780
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, ... OMIM:268130
Filippi Syndrome
Sparse hair, Frontal hirsutism, Hypertrichosis, Decreased body weight OMIM:272440
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Raynaud phenomen... OMIM:611773
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Eosinophilia, Hyperc... ORPHA:199299
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Pancreatitis OMIM:145980
Immunodeficiency 56
Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Failure to thrive, Pa... OMIM:615207
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc... OMIM:618775
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... ORPHA:69735
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, I... ORPHA:91500
Retinoblastoma
Vitreous hemorrhage, Leukemia, Leukocoria OMIM:180200
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... OMIM:607625
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Heart murmur ORPHA:1867
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti... OMIM:615846
Shwachman-Diamond Syndrome
Normocytic anemia, Hepatomegaly, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute... ORPHA:811
Adams-Oliver Syndrome 6
Splenomegaly, Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension OMIM:616589
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Howell-Jolly bodies, Weight loss, Nephrotic syndr... ORPHA:85443
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Say-Barber-Miller Syndrome
Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Transient hypogammaglobulinem... ORPHA:3132
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Portal hypertension, Cholestasis, Bile duct proliferation, Hypocalcemia, Cirrhosis,... OMIM:613658
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... ORPHA:391487
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat... ORPHA:676
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... OMIM:300842
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal... ORPHA:809
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... ORPHA:99901
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia, Pancreatitis OMIM:145981
Fanconi Anemia, Complementation Group S
Low anterior hairline, Long eyelashes, Sparse hair, Failure to thrive, Anemia OMIM:617883
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism... OMIM:252930
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Hypertension, Increased blood urea nitrogen, Episodic hemolytic anemia, Enlarged k... ORPHA:251004
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Adams-Oliver Syndrome
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope... ORPHA:974
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F... OMIM:260400
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hyp... ORPHA:202
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Autoimmunity, Weight loss ORPHA:33577
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613990
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level OMIM:617425
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Low posterior hairline, Sparse hair OMIM:613224
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto... ORPHA:93552
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Glomerulonephritis, Decreased p... ORPHA:289390
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Monosomy 13Q34
Epistaxis, Hypercalcemia, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic st... ORPHA:96168
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... OMIM:612852
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium OMIM:619339
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath... ORPHA:3386
Vici Syndrome
Renal tubular acidosis, Decreased circulating IgG2 level, Decreased circulating IgG level, Ureter... ORPHA:1493
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal opacity ORPHA:496790
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Cataract, Hyperphosphatemia OMIM:103580
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Ascites, Anemia ORPHA:79325
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Gm1 Gangliosidosis
Corneal opacity, Congestive heart failure, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy ORPHA:354
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Pediatric-Onset Graves Disease
Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm... ORPHA:525731
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... ORPHA:51636
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Failure to thrive, Slender b... OMIM:608154
Hurler Syndrome
Hepatomegaly, Corneal opacity, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Cardiom... ORPHA:93473
Dubowitz Syndrome
Sparse scalp hair, Aplastic anemia, Hypospadias, Acute lymphoblastic leukemia, Decreased circulat... OMIM:223370
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Splenomegaly, Hypopigmentation of hair, Hepatomegaly OMIM:618541
Gand Syndrome
Sparse hair OMIM:615074
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly OMIM:613576
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Highly arched eyebrow, Synophrys, Decreased circulating antibody... OMIM:617062
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Digeorge Syndrome
Sclerocornea, Thrombocytopenia, Splenomegaly, Abnormal thymus morphology, Hypoplasia of the thymu... OMIM:188400
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Frontal balding OMIM:602668
Sialuria
Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nipples, Increased lev... OMIM:269921
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Sjogren-Larsson Syndrome
Astigmatism, Opacification of the corneal epithelium OMIM:270200
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Corneal opacity, Atria... ORPHA:137675
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Raynaud phenomenon, Splenomegaly, Jaundice... OMIM:613471
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Co... ORPHA:465508
Joubert Syndrome 37
Hepatomegaly, Obesity, Sparse hair, Micropenis, Hydronephrosis OMIM:619185
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Autoimmunity, Hepatitis, Rectal abscess, Hypoplasia ... ORPHA:436252
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Synophrys, Small for gestational age, Thick eyebrow OMIM:611091
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Viss Syndrome
Sparse scalp hair, Alopecia, Increased circulating IgE level, Hypereosinophilia, Increased circul... OMIM:619472
Zellweger Syndrome
Hepatomegaly, Cataract, Corneal opacity, Brushfield spots, Jaundice, Posterior embryotoxon ORPHA:912
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Shigellosis
Hyponatremia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, ... ORPHA:810
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Velocardiofacial Syndrome
Posterior embryotoxon, Hypocalcemia OMIM:192430
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification o... OMIM:252605
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Generalized hirsutism, Long eyelashes in irregular rows, ... ORPHA:2963
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Hepatomegaly, Sea-blue histiocytosis OMIM:230600
Encephalitis Lethargica
Autoimmunity, Increased circulating antibody level, Urinary incontinence ORPHA:83600
Mucopolysaccharidosis Type 1
Corneal opacity, Abnormality of the tonsils, Splenomegaly, Congestive heart failure, Hypertrophic... ORPHA:579
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... ORPHA:567983
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia ORPHA:2591
Stromme Syndrome
Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Graft Versus Host Disease
Jaundice, Chronic hepatitis, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubi... ORPHA:39812
Pseudo-Torch Syndrome 2
Hepatomegaly, Ascites, Thrombocytopenia OMIM:617397
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline ORPHA:2183
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Corneal opacity, Cardiomegaly ORPHA:349
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ... ORPHA:565612
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypert... OMIM:616028
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conjunctivitis, Neutropen... ORPHA:293173
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, H... ORPHA:95409
Autosomal Dominant Kenny-Caffey Syndrome
Developmental cataract, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93325
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Autosomal Recessive Cutis Laxa Type 2A
Abnormal bleeding, Abnormal cornea morphology, Corneal opacity ORPHA:357058
Wilson Disease
Hepatomegaly, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... OMIM:277900
Aicardi-Goutieres Syndrome 1
Splenomegaly, Hepatomegaly, Thrombocytopenia, Prolonged neonatal jaundice OMIM:225750
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... ORPHA:276621
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu... OMIM:608710
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin... OMIM:192315
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Hypertension, Hyperur... ORPHA:79083
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia, Nail d... OMIM:612199
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Thrombocytopenia OMIM:611126
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia OMIM:253270
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypophosphatemia OMIM:600740
Lowry-Maclean Syndrome
Developmental glaucoma, Abnormality of the abdominal organs, Megalocornea, Corneal opacity ORPHA:2409
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... OMIM:258360
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... ORPHA:97282
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Intrahepatic ... ORPHA:97283
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Hypertriglyceridemi... OMIM:619573
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Corneal opacity, Splenomegaly, Cardiomyopathy, Mitral regu... OMIM:253200
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Keratoconjunctivitis, Chronic hepatitis... OMIM:269200
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia OMIM:616271
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase... ORPHA:90041
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Renal hypoplasia, Sparse hair, Vesicoureteral reflux OMIM:616854
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Abnormality of serum cytokine level, Microangiopathic hemolytic... ORPHA:464343
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Hypoplasia o... OMIM:214110
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Small for gestational age, Renal hypoplasia, Fine hair OMIM:616817
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Down Syndrome
Sparse hair, Abnormality of the lymphatic system, Obesity, Acute megakaryocytic leukemia ORPHA:870
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia OMIM:608013
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... ORPHA:1807
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma OMIM:271630
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230900
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Mucopolysaccharidosis, Type Vii
Splenomegaly, Cardiomyopathy, Corneal opacity, Hepatomegaly OMIM:253220
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Angina pectori... ORPHA:425
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myocardial infarction, Myo... ORPHA:3452
Congenital Analbuminemia
Small for gestational age, Increased circulating antibody level, Obesity ORPHA:86816
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma, Aortic ... OMIM:253010
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... ORPHA:29072
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Hypertyrosinemia, Elevated circulating alpha-fetoprote... OMIM:276700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreased body weight, Sp... ORPHA:391408
Craniofacioskeletal Syndrome
Absent gallbladder, Hypocalcemia OMIM:300712
Incontinentia Pigmenti
Cataract, Corneal opacity, Telangiectasia of the skin, Eosinophilia, Keratitis, Congestive heart ... ORPHA:464
Mucopolysaccharidosis Type 6
Splenomegaly, Opacification of the corneal stroma ORPHA:583
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, Coa... ORPHA:83617
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic c... OMIM:218330
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Abnormality of the spleen, Throm... ORPHA:2072
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
Monosomy 18Q
Low anterior hairline, Micropenis, Failure to thrive, Slender build, Decreased circulating IgA level ORPHA:1600
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Hepatosplenomegaly, Low po... OMIM:613563
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227645
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:249100
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h... OMIM:175780
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Intrahepatic ... ORPHA:97278
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Truncal obesity, Sparse hair, Microp... OMIM:616541
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... OMIM:263700
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:603467
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl, Micropenis, Hypospadias ORPHA:2872
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... ORPHA:77293
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... OMIM:115150
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Walker-Warburg Syndrome
Cataract, Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris ... ORPHA:899
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Increased urinary glycerol, Ketonuria, Failure to thrive in infancy, Jaundice, Chol... ORPHA:247598
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Microphthalmia, Isolated, With Coloboma 9
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea OMIM:615145
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration OMIM:614204
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Neoplasm of t... ORPHA:97261
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Immunodeficiency 58
Recurrent cutaneous abscess formation, Dysuria, Decreased circulating antibody level, Decreased s... OMIM:618131
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasi... ORPHA:217346
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Acanthocytosi... ORPHA:97280
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Chronic kidney disease, Paraproteinemia, Glomerul... ORPHA:439232
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto... ORPHA:3260
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation ORPHA:2719
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Nail dystrophy, Sparse hair ORPHA:85448
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage, Elevated circulating creatine kinase concentration OMIM:615368
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per... OMIM:263200
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chro... OMIM:158310
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Gaucher Disease
Abnormal bleeding, Hepatomegaly, Pancytopenia, Corneal opacity, Elevated circulating C-reactive p... ORPHA:355
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... ORPHA:2969
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Decreased circulating antibody level, Anemia, Nail dystrophy, Failure to thrive, Onycho... ORPHA:79396
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep... OMIM:602782
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Lymphopenia OMIM:619745
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Cirrhosis, Sparse hair, Failure to thrive, Fragile nails OMIM:242150
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Sparse hair,... ORPHA:96123
Hermansky-Pudlak Syndrome 10
Splenomegaly, Hepatomegaly, Ocular albinism, Neutropenia OMIM:617050
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
H Syndrome
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney, Hi... ORPHA:168569
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsi... ORPHA:581
Addison Disease
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Thiamine-responsive mega... ORPHA:85138
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... ORPHA:731
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Decreased circulating total IgM, Congenita... ORPHA:369837
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Hypert... OMIM:232220
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Hepatic fibrosis, Polycystic kidney dysplas... OMIM:614091
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Failure to thrive OMIM:620001
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... OMIM:256800
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus ORPHA:2301
Chromosome 5P13 Duplication Syndrome
Vesicoureteral reflux, Small for gestational age, Sparse hair, Low posterior hairline OMIM:613174
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Corneal opacity, Developmental cataract OMIM:616603
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia ORPHA:884
Wagro Syndrome
Aniridia, Hypertension, Cataract, Corneal opacity OMIM:612469
Mosaic Trisomy 9
Asplenia, Corneal opacity, Abnormal liver lobulation ORPHA:99776
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Mitral regurgi... ORPHA:309282
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Dark yellow urine, Atretic gallbladder, Splenomegaly, Ja... ORPHA:30391
Microphthalmia With Brain And Digit Anomalies
Microcornea, Cataract, Iris coloboma, Sclerocornea ORPHA:139471
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Micropenis, Small for gestational age OMIM:610756
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Cat... OMIM:614866
Chops Syndrome
Curly hair, Thick hair, Splenomegaly, Synophrys, Obesity, Horseshoe kidney, Coarse hair, Long eye... OMIM:616368
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Cataract, Hepatomegaly, Eosinophilia, Po... ORPHA:797
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Rapp-Hodgkin Syndrome
Sparse eyelashes, Hypospadias, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... OMIM:129400
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures ORPHA:405
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp OMIM:615280
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic toenail, Nail d... ORPHA:3253
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age, Sparse body hair OMIM:300869
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Prolon... OMIM:274000
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Xp22.13P22.2 Duplication Syndrome
Sparse hair, Truncal obesity, High anterior hairline ORPHA:284180
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Portal hypertension, Fetal ascites, Cholestasis, Hepatosplenomegaly, Ischemic s... OMIM:619503
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive ORPHA:2316
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Obesity, Sparse body hair ORPHA:2234
Johanson-Blizzard Syndrome
Hepatomegaly, Portal hypertension, Increased VLDL cholesterol concentration, Conjugated hyperbili... OMIM:243800
Rothmund-Thomson Syndrome
Small for gestational age, Aplastic anemia, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, S... ORPHA:2909
Rodrigues Blindness
Microcornea, Sclerocornea OMIM:268320
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:32960
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Congestive heart failure, Jaundice, Splen... OMIM:615512
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Failure to thrive, Hyperconvex nail OMIM:619721
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Cockayne Syndrome Type 3
Hepatomegaly, Cataract, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Microcornea, Cardi... ORPHA:90324
8Q21.11 Microdeletion Syndrome
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation ORPHA:284160
Cogan Syndrome
Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis, Conjunctiviti... ORPHA:1467
Ruijs-Aalfs Syndrome
Premature graying of hair, Hepatocellular carcinoma, Sparse hair, Decreased body weight OMIM:616200
Hereditary Mucoepithelial Dysplasia
Hematuria, Alopecia, Sparse hair, Fine hair ORPHA:1839
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Lathosterolosis
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol... OMIM:607330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Cataract, Asplenia, Abnormal pupil morphology, Hyphema, Microcornea, Ectopia pupill... ORPHA:261552
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Corneal opacity OMIM:163200
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Mucopolysaccharidosis Type 2, Severe Form
Corneal opacity, Splenomegaly, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Cardiomyopathy... ORPHA:217085
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Abnormal fingernail morphology, Nail dystro... ORPHA:678
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Leukemia, Neutropenia, Annu... OMIM:227646
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Thromb... ORPHA:46059
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Prominent corneal nerve fibers, Cervical lymphadenopathy, Neoplasm of the liver, P... ORPHA:653
Mucopolysaccharidosis Type 2, Attenuated Form
Corneal opacity, Splenomegaly, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Cardiomyopathy... ORPHA:217093
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas OMIM:618162
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Scleromyxedema
Paraproteinemia ORPHA:167635
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Truncal obesity, Hypoplasia of penis, Thick eyebrow ORPHA:127
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Failure to thrive OMIM:219150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hyperammonemia, Elevat... ORPHA:79282
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Charge Syndrome
Cataract, Hypocalcemia, Pulmonic stenosis, Iris coloboma, Lymphopenia, Aplasia/Hypoplasia of the ... OMIM:214800
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular ant... OMIM:612582
Meckel Syndrome
Accessory spleen, Cataract, Pancreatic fibrosis, Sclerocornea, Asplenia, Congenital hepatic fibro... ORPHA:564
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity ORPHA:1765
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Small for gestational age, Abnormal hai... OMIM:133540
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Mucopolysacchariduria, Sp... OMIM:252500
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Carpenter Syndrome 1
Microcornea, Polysplenia, Pulmonic stenosis, Opacification of the corneal stroma OMIM:201000
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia OMIM:301072
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage OMIM:177850
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypospadias, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hair, Failure to thrive OMIM:613026
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Aplasia... ORPHA:221008
Hardikar Syndrome
Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hypertension, Hypersplenism, Port... OMIM:301068
Hamamy Syndrome
Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Low posterior hairline, Hypochromic anemia, ... OMIM:611174
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Distal Deletion 19P
Alopecia, Thick eyebrow, Decreased circulating antibody level ORPHA:96129
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... OMIM:609049
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Pancreatitis, Abnormality of neutrophils ORPHA:36426
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Al-Gazali Syndrome
Corneal opacity, Sclerocornea OMIM:609465
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Scarf Syndrome
Hepatocellular adenoma, Low posterior hairline, Perineal hypospadias, Hypoplastic nipples, Sparse... ORPHA:3134
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Cranioectodermal Dysplasia 2
Hepatomegaly, Renal insufficiency, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, B... OMIM:613610
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Opacification of the corneal stroma, Increased serum beta-hexosaminidase, H... OMIM:252600
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Toxic Epidermal Necrolysis
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia ORPHA:537
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly OMIM:120200
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Corneal opacity, Acute lymphoblastic leukemia, Ascites ORPHA:1052
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Thin nail, Urinary retention, Neutropenia, Sparse hair OMIM:617799
Macs Syndrome
Alopecia, Sparse eyebrow, Urethral stenosis, Decreased body weight, Sparse hair OMIM:613075
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy a... OMIM:106260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Buphthalmos, Peter... OMIM:236670
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Urachal Cyst
Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Per... ORPHA:488
Cardiofaciocutaneous Syndrome
Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal eyelash morphology, Low p... ORPHA:1340
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Decreased circulating antibod... OMIM:604928
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Aplastic anemia, Alopecia totalis, Sparse or absent eyelashes, Aplasia... ORPHA:221016
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... OMIM:300952
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Mucopolysaccharidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly, Enlarged tonsils, Cardiomyopathy, Hypertension, Arrh... ORPHA:580
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... OMIM:615485
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ... OMIM:268400
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Splenomegaly, Thymic hormone decreased,... OMIM:216400
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive, Hydronephrosis OMIM:302960
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Cataract, Corneal opacity, Hypoammonemia, Abnormal pupil morphology, Buphthalmos, A... ORPHA:534
Listeriosis
Brain abscess, Liver abscess, Abscess, Jaundice, Peritonitis, Abnormal cellular immune system mor... ORPHA:533
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Hepatic fibr... OMIM:615273
Lamellar Ichthyosis
Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Aminoaciduria, Hypoplastic nipples, Small nail OMIM:273400
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia OMIM:614653
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly OMIM:619005
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Hematochezia ORPHA:913
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Hypophosphatemia, Pancreatitis ORPHA:99880
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Cockayne Syndrome
Hepatomegaly, Cataract, Band keratopathy, Splenomegaly, Retinal hemorrhage, Developmental catarac... ORPHA:191
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... OMIM:230740
Focal Dermal Hypoplasia
Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma ORPHA:2092
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Hypophosphatemia, Pancreatitis ORPHA:143
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow OMIM:212066
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Corneal opacity, Pulmonic stenosis ORPHA:488632
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal blood pressure, ... OMIM:601678
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair OMIM:257850
White-Sutton Syndrome
Sparse hair, Failure to thrive, Obesity OMIM:616364
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Highly arched eyebrow, Large for gestational age, Fine hair, Acute lymphoblastic le... OMIM:280000
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Cirrhosis, S... OMIM:614099
Axenfeld-Rieger Syndrome, Type 2
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae OMIM:601499
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma OMIM:601853
Kid Syndrome
Recurrent cutaneous abscess formation, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of sca... ORPHA:477
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis ORPHA:93126
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess ORPHA:289176
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Hypospadias, Failure to thrive in infancy, Fine hair, Ch... OMIM:618891
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Small nail, Sparse hair, High ant... OMIM:250410
Hepatoerythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Splenomegaly, Abnormal circulating porphyrin concentration, ... ORPHA:95159
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Mucopolysaccharidosis Type 4
Corneal opacity ORPHA:582
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Insulinoma, Pancreatic islet cell adenoma OMIM:131100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Iris coloboma, Sclerocornea ORPHA:77298
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... OMIM:617506
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, Stage 5 chronic kidney disease OMIM:608612
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Corneal opacity OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity OMIM:259600
Spondylodysplastic Ehlers-Danlos Syndrome
Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Pulmonic stenosis, Megalo... ORPHA:536471
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Failure to thrive, Thick hair ORPHA:357074
Neurofibromatosis Type 1
Cataract, Corneal opacity, Chronic myelogenous leukemia, Hypertension, Lisch nodules, Leukemia, H... ORPHA:636
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Cirrhosis,... OMIM:305000
Pelvis-Shoulder Dysplasia
Iris coloboma, Opacification of the corneal stroma OMIM:169550
De Barsy Syndrome
Cataract, Corneal opacity ORPHA:2962
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Hypospadias, Hydronephrosis OMIM:616449
Oculodentodigital Dysplasia
Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, ... ORPHA:2710
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Opacification of the c... OMIM:214100
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Hawkinsinuria, Sparse hair, Fail... OMIM:140350
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity ORPHA:464311
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Williams Syndrome
Elevated circulating creatine kinase concentration, Myocardial infarction, Cardiomegaly, Megaloco... ORPHA:904
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Sympathetic Ophthalmia
Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the anterior chamber... ORPHA:79098
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair OMIM:268020
Chime Syndrome
Corneal opacity, Acute leukemia ORPHA:3474
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Microcytic anemia, Thrombocytopenia, Splenomegaly, Increased hepatic echogenicity, ... OMIM:619525
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Insulinoma, Thymoma, Extrahepatic cholestasis, Abnormality of pancreas physiology ORPHA:276152
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... OMIM:309801
Mosaic Trisomy 8
Corneal opacity ORPHA:96061
Familial Drusen
Macular hemorrhage ORPHA:75376
Fryns Syndrome
Corneal opacity ORPHA:2059
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small for gestational age, Nail dysplasia, Small nail, Sparse hair, Failure to thrive, Breast hyp... OMIM:614813
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Cysticercosis
Increased circulating antibody level ORPHA:1560
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Hypoplastic fingernail ORPHA:2457
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Micropenis, Fine hair ORPHA:251028
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity ORPHA:464306
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Sclerocornea OMIM:613001
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Abdominal situs inversus... ORPHA:2108
Scarf Syndrome
Low anterior hairline, Low posterior hairline, Perineal hypospadias, Hypoplastic nipples, Sparse ... OMIM:312830
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia, Exocrine pancreatic insufficiency, Hepatome... OMIM:619004
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Fine hair, Sparse... OMIM:234100
Naxos Disease
Subungual hyperkeratosis, Curly hair, Cardiomegaly, Sparse eyebrow, Onycholysis, Nail dystrophy, ... OMIM:601214
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Fine hair, Sparse hair, Ureteropelvic junction obstruction, Failure to thrive, Hy... ORPHA:444072
Aicardi-Goutières Syndrome
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Large for gestational age, Loose anagen hair, Long eyelashes, Spar... OMIM:607721
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Shortened QT interval, Hematemesis, Insulinoma, Thymoma,... ORPHA:652
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Horseshoe kid... OMIM:272950
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume ORPHA:487796
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Opacification of the corneal stroma OMIM:253000
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Corneal opacity, Iris coloboma ORPHA:2396
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Abnormality of the liver,... ORPHA:548
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Sparse medial eyebrow, Low anterior hairline, Low po... OMIM:601358
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Corneal opacity, Sclerocornea, Dilated cardiomyopathy, Mitral regurgitat... ORPHA:2556
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Proteinuria, Elevated hemoglobin A1c, Sparse eyebrow, Focal segmental glomeruloscle... OMIM:619127
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Decreased body weight OMIM:615349
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Brittle hair, Proteinuria, Alopecia, Pancreati... ORPHA:2750
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Sparse body hair ORPHA:3068
Jacobsen Syndrome
Annular pancreas, Thrombocytopenia OMIM:147791
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Prolonged neonatal jaundice, Hypoplastic ni... OMIM:620186
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L... ORPHA:740
3Mc Syndrome 3
Corneal opacity OMIM:248340
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Urolithiasis, Hyperuricosuria, Spars... OMIM:300661
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Decreased body weight, Sparse hair, Failure to th... OMIM:602535
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow ORPHA:560
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Kindler Epidermolysis Bullosa
Conjunctivitis, Anemia, Corneal opacity ORPHA:2908
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea OMIM:614230
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Corneal opacity ORPHA:364577
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Hydroureter, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pu... OMIM:129900
Glass Syndrome
Sparse hair, Long eyelashes, Nail dysplasia OMIM:612313
Cornelia De Lange Syndrome 1
Duplication of internal organs, Thrombocytopenia OMIM:122470
Costello Syndrome
Deep-set nails, Curly hair, Renal insufficiency, Thin nail, Concave nail, Sparse hair, Failure to... OMIM:218040
Weaver Syndrome
Sparse hair, Thin nail, Deep-set nails, Fine hair OMIM:277590
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Renal hy... OMIM:181270
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Small for gestational age OMIM:614114
Moebius Syndrome
Corneal opacity ORPHA:570
Orofaciodigital Syndrome I
Alopecia, Dry hair, Proteinuria, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia,... OMIM:311200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Granulomatosis With Polyangiitis
Granulomatosis, Pancreatitis, Elevated circulating C-reactive protein concentration ORPHA:900
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... ORPHA:363618
Ogden Syndrome
Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Iron deficiency anemi... OMIM:300855
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism OMIM:300966
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Osteogenesis Imperfecta
Aortic regurgitation, Corneal opacity, Cerebral hemorrhage, Bruising susceptibility, Thrombocytop... ORPHA:666
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Failure to thrive, Sparse eyebrow OMIM:244450
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leukopenia, Abnormality of the live... ORPHA:84
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Vesicoureteral reflux, Thick eyebrow OMIM:609460
Acute Liver Failure
Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellular necrosis, Hepatic periporta... ORPHA:90062
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Absent gallbladder, Failure to thrive in infancy, Unilateral renal agenesis, Sparse e... ORPHA:500150
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Hypospadias, Fine hair OMIM:305450
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Jacobsen Syndrome
Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia ORPHA:2308
Oculodentodigital Dysplasia
Neurogenic bladder, Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Oculoectodermal Syndrome
Transient ischemic attack, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal ... OMIM:600268
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Micropenis, Sparse body hair, Breast hypoplasia ORPHA:432
Limb Body Wall Complex
Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma ORPHA:2369
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Mosaic Trisomy 1
Hepatic agenesis, Opacification of the corneal stroma ORPHA:1692
Roberts Syndrome
Sparse hair, Thrombocytopenia, Long penis, Polycystic kidney dysplasia ORPHA:3103
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r... ORPHA:90348
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Cataract, Hypoalbuminemia, Opacification of the corneal stroma OMIM:251300
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy ORPHA:495875
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Menkes Disease
Hypopigmentation of hair, Bladder diverticulum, Prolonged neonatal jaundice, Sparse hair, Woolly ... ORPHA:565
Wolf-Hirschhorn Syndrome
Sclerocornea, Abnormality of the gallbladder, Abdominal situs inversus, Megalocornea, Iris coloboma ORPHA:280
Larsen Syndrome
Corneal opacity OMIM:150250
Ablepharon Macrostomia Syndrome
Corneal erosion, Corneal opacity ORPHA:920
Smith-Lemli-Opitz Syndrome
Cataract, Sclerocornea, Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol... ORPHA:818
Fraser Syndrome 1
Abnormal thymus morphology, Corneal opacity OMIM:219000
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Pili torti, Prem... ORPHA:79474
Stuve-Wiedemann Syndrome 1
Sparse hair OMIM:601559
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Renal hypoplasia, Renal cyst, Fine hair, Pol... OMIM:210710
Peters Plus Syndrome
Cataract, Corneal opacity, Microcornea, Pulmonic stenosis, Peters anomaly, Iris coloboma, Anterio... ORPHA:709
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Hypospadias, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior ha... OMIM:619841
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Hydroureter, Thin fingernail, Abnormal eyelash morphology, Abnormal hai... ORPHA:2273
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Failure to thrive, Chordee, Hypospadias OMIM:151050
Proboscis Lateralis
Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Hepatic steatosis, Urinary incontinence OMIM:619934
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Williams-Beuren Syndrome
Hypercalcemia, Portal hypertension, Blue irides, Hypertension, Mitral regurgitation, Pulmonic ste... OMIM:194050
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Corneal opacity, Biliary tract abnormality, Opacification of the corn... OMIM:268300
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Telangiectasia, Opa... ORPHA:910
Fryns Syndrome
Ectopic pancreatic tissue, Polysplenia, Opacification of the corneal stroma OMIM:229850
Myhre Syndrome
Small for gestational age, Obesity, Fine hair, Sparse hair, Thick eyebrow OMIM:139210
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Sparse axillary hair, Sparse pubic hair, Enlarged polycystic ovaries, Micropenis, Fa... ORPHA:90796
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Small for gestational age, Polyuria, Recurrent pancreatitis, Sparse hair, Fail... OMIM:606721
Yunis-Varon Syndrome
Cataract, Sclerocornea, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy, Pu... ORPHA:3472
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Wiedemann-Rautenstrauch Syndrome
Cataract, Corneal opacity, Hypertriglyceridemia, Pulmonic stenosis, Hepatic steatosis ORPHA:3455
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Cardiomegaly, Retinal hemorrhage, Hepatic calcification, Hypertension,... ORPHA:51608
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia universalis ORPHA:158668
Microphthalmia, Syndromic 3
Cataract, Sclerocornea OMIM:206900
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Gingival bleeding, Opacification of the corneal stroma, Keratoconjunc... ORPHA:2907
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Corneal opacity OMIM:608670
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Horseshoe kidney, Patchy a... OMIM:305600
Neurocardiofaciodigital Syndrome
Small for gestational age, Sparse eyebrow, Sparse hair, Vesicoureteral reflux, Failure to thrive OMIM:619869
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Renal hypoplasia, Obesity, Sparse hair, Frontal hirsutism, Failure to thrive OMIM:617157
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Renal cyst, Low posterior hairline, Premature graying of hair,... OMIM:113620
Sotos Syndrome
Cataract, Hypercalcemia, Acute lymphoblastic leukemia, Astigmatism, Prolonged neonatal jaundice ORPHA:821
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Abnormal fingernail morphology, Pyelonephritis, Duplication of renal pelvis... ORPHA:2036
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... OMIM:263650
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Hydroureter, Loss of eyelashes, Thin eyebrow, Sparse hair, Hydronephrosis ORPHA:2636
Renpenning Syndrome 1
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Sparse hair, Sparse lateral eyebrow OMIM:309500
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia OMIM:163950
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Micropenis, Fine hair OMIM:241080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... OMIM:253280
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Sparse hair, Vesicoureteral reflux, Alopecia of scalp, Fragile ... OMIM:150230
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine... ORPHA:1662
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Micropenis, Hypoplastic finge... OMIM:200110
Wrinkly Skin Syndrome
Sparse hair, Failure to thrive, Short nail, Fragile nails OMIM:278250
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Proteinuria, Nail dysplasia OMIM:616682
Wrinkly Skin Syndrome
Sparse hair, Failure to thrive ORPHA:2834
Menke-Hennekam Syndrome 1
Sparse hair, Long eyelashes, Thick eyebrow OMIM:618332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma OMIM:615287
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Hypertension, Opacification of the corneal stroma, Recurrent corneal erosions, Corneal... OMIM:308205
Microphthalmia, Syndromic 6
Microcornea, Sclerocornea OMIM:607932
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Hypospadias, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow,... OMIM:601803
Primrose Syndrome
Sparse scalp hair, Absent facial hair, Synophrys, Truncal obesity, Absent axillary hair, Dystroph... OMIM:259050
Yunis-Varon Syndrome
Cataract, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension OMIM:216340

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 Pld4

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 Pld4.

No publications found that use IMPC mice or data for Pld4.

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
Pld4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pld4em1(IMPC)Mbp Exon Deletion Mice

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