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Gene: Diaph1 MGI:1194490

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Gene Summary

Name:
diaphanous related formin 1
Synonyms:
Drf1,  D18Wsu154e,  Diap1,  mDia1,  Dia1,  p140mDia

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 blood urea nitrogen level Diaph1em1(IMPC)Rbrc HOM   Early adult 1.71×10-05

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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.

Phenotype associated images not available

Human diseases caused by Diaph1 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.

The table below shows human diseases associated to Diaph1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Recurrent infections ORPHA:477814
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Seizures, Cortical Blindness, And Microcephaly Syndrome
Growth delay, Short stature, Bronchiectasis OMIM:616632
Moyamoya Disease
ORPHA:2573

The table below shows human diseases predicted to be associated to Diaph1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Immunodeficiency 24
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Recurrent viral infections, Severe vari... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
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
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Hereditary Progressive Mucinous Histiocytosis
Pruritus, Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Increased pro... OMIM:618982
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Dehydration, Leukopenia, Chronic otitis media, Aplasia/Hyp... ORPHA:33355
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... OMIM:618987
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:613502
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Oral ulcer, Chronic mucocutaneous candidiasis, Lym... OMIM:608971
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent upper respiratory tract infections, ... OMIM:618944
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Edema, Pruritus, Splenomegaly, Leukocytosis, Thy... ORPHA:39041
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... OMIM:606843
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia ORPHA:100025
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immunodeficiency 44
Lymphopenia, Severe viral infection, Decreased circulating total IgM, Abnormal circulating IgG le... OMIM:616636
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... OMIM:619281
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... OMIM:610163
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Ed... OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, ... OMIM:603552
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai... ORPHA:2325
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Lymphadenopathy, Abnorm... ORPHA:2584
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:612692
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent bacterial meningitis, Reduc... OMIM:300400
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Complete or near-complete absence of specif... OMIM:607271
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count, Chronic oral candidiasis OMIM:615592
Sézary Syndrome
Hepatomegaly, Alopecia, Edema, Pruritus, Splenomegaly, Lymphadenopathy, Nail dystrophy, Erythrode... ORPHA:3162
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Dehydration, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Prem... ORPHA:486
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent pneum... ORPHA:277
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... OMIM:603554
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia... OMIM:304790
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l... OMIM:619164
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... ORPHA:2688
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Persistence of ... OMIM:259710
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched m... OMIM:619126
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... OMIM:605258
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Decreased circulating IgG level, Increased circulating IgE leve... OMIM:615767
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Recurrent mycob... ORPHA:98813
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Dehydration ORPHA:28
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Cinca Syndrome
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, ... OMIM:607115
Systemic Lupus Erythematosus 17
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Oral ulcer, Leukopenia, Opt... OMIM:301080
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Hypoplastic toenails, Spars... ORPHA:2722
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Hep... ORPHA:210110
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Recurrent infections, Hepatosplenomegaly, Decreased circulatin... OMIM:618261
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Anemia ORPHA:37748
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome... ORPHA:169160
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Dehydration, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Abnormal n... ORPHA:3392
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... OMIM:615387
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Peeling Skin Syndrome 1
Brittle hair, Short stature, Eosinophilia, Pruritus, Onycholysis, Nail dystrophy, Erythroderma OMIM:270300
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Dehydr... ORPHA:33110
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Lymphaden... OMIM:618935
Alpha-Mannosidosis
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Dental m... ORPHA:61
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Mye... ORPHA:79456
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Gr... OMIM:615895
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... ORPHA:47
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Anemia, Increased ... OMIM:617021
Isovaleric Acidemia
Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph... OMIM:209950
Immunodeficiency 70
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... OMIM:618969
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Enanthema, Hepatitis, Thyroiditis, Lym... ORPHA:139402
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Anemia, Lymphadenopathy, Colitis, Hemophagocytosis, Recurrent s... OMIM:613101
Netherton Syndrome
Hypernatremic dehydration, Sparse scalp hair, Brittle hair, Recurrent skin infections, Allergic r... OMIM:256500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Generalized ly... OMIM:618986
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Micrognathia, Pruritus,... OMIM:618282
Cyclic Neutropenia
Premature loss of permanent teeth, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Peri... ORPHA:2686
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Splenom... ORPHA:2930
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Jaundice, Neutr... ORPHA:540
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Eczema, Dehydration, Anemia, Neutropenia, Pancreatitis... OMIM:606054
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... OMIM:616005
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Growth delay, T lymphocytopenia, Erythroderma, Decreased proportion of CD... OMIM:619510
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Fanconi Anemia, Complementation Group S
Short stature, Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Long eyela... OMIM:617883
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hep... ORPHA:231214
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Abnormal fingernail morpho... ORPHA:75564
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A... OMIM:246400
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... ORPHA:98848
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Dental malocclusion, Hepatosplenomegaly, Anemia OMIM:259730
Zimmermann-Laband Syndrome
Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat... ORPHA:3473
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Nail dystrophy, Enamel hypoplasi... ORPHA:79402
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... OMIM:301078
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Neutropenia, Chronic Familial
Premature loss of teeth, Periodontitis, Gingivitis, Neutropenia OMIM:162700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Micrognathia, Splenomega... OMIM:259720
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul... OMIM:617638
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his... OMIM:607616
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey... ORPHA:381
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Short stature, Neutropenia ORPHA:90023
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia ORPHA:337
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... ORPHA:507
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Roifman Syndrome
Hepatomegaly, Thin upper lip vermilion, Short stature, Eosinophilia, Eczema, Postnatal growth ret... OMIM:616651
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia, Seborrheic dermatitis OMIM:121270
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Persisten... OMIM:620282
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder OMIM:607685
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... OMIM:615010
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Congenital Atransferrinemia
Arthritis, Anemia, Abnormality of the pancreas ORPHA:1195
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM... OMIM:608106
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent skin infections, Short stature, Postnatal growth retardation, Splenomegal... OMIM:620210
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Short stature, Neutropenia OMIM:616022
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p... OMIM:616576
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Alopecia, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Oral... ORPHA:93552
Roifman Syndrome
Thin upper lip vermilion, Short stature, Eosinophilia, Eczema, Hyperconvex nail, Postnatal growth... ORPHA:353298
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Absent axillary hair, Thrombocytopenia OMIM:269600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... ORPHA:436159
Generalized Pustular Psoriasis
Pustule, Leukocytosis, Cheilitis, Uveitis, Pedal edema, Arthritis, Palmoplantar pustulosis, Eryth... ORPHA:247353
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia ORPHA:517
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Candidiasis, Familial, 1
Alopecia, Premature loss of teeth, Chronic mucocutaneous candidiasis OMIM:114580
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair ORPHA:505
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Anemia ORPHA:1802
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Intrauterine growth retardation, A... ORPHA:858
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections OMIM:146830
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Dehydration, Tubulointerstitial nephritis, Leukopenia, Neutropenia, Pancreatitis, T... OMIM:251000
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Diamond-Blackfan Anemia 9
Growth delay, Anemia, Webbed neck OMIM:613308
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth, Ascites, Anemia,... ORPHA:1046
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Ascites,... ORPHA:295
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp... OMIM:618495
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus, Hypersplenism, Leukocytosis... ORPHA:98850
Mulibrey Nanism
Hepatomegaly, Short stature, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic f... OMIM:253250
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... OMIM:604416
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Nail pits, Hepatic necro... OMIM:127550
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... ORPHA:3226
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:86893
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... ORPHA:397596
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... OMIM:616100
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... OMIM:602450
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... OMIM:141300
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Wolcott-Rallison Syndrome
Hepatomegaly, Short stature, Jaundice, Dehydration, Growth delay, Iron deficiency anemia, Abnorma... ORPHA:1667
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Pr... ORPHA:79477
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... OMIM:609981
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... ORPHA:1008
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr... OMIM:608184
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Polyhydramnios, Micrognathia, Trismus, Recurrent pneumonia, Dehydration, Growth delay... OMIM:616271
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Rubinstein-Taybi Syndrome 2
Short stature, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsutism, Dental ... OMIM:613684
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... OMIM:619692
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Edema, Retrobulbar optic neuritis, Leukocytosis, Spleno... ORPHA:1451
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ... OMIM:147060
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Alopecia, Short stature, Selective tooth agenesis, Microcytic anemia, M... ORPHA:2959
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal fingernail morphology, Edema,... ORPHA:2796
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Hepatomegaly, Myocardit... ORPHA:809
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Bone Marrow Failure Syndrome 4
Short stature, Eczema, Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:618116
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Thrombocytopenia OMIM:617443
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Keratitis, Scarring alopecia of scalp, Carious teeth, Nail dystrophy, Nail dysplas... OMIM:226670
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
Lymphangiectasia, Intestinal
Edema, Abnormal hair morphology, Pedal edema, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Short stature, Microcytic anemia, Deep philtrum, Recurrent pneumonia, Lymp... OMIM:619750
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... ORPHA:232
Parc Syndrome
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate OMIM:600331
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Widow's peak, Periodontitis, Reduction of neutrophil moti... OMIM:266265
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatosplenomegaly,... ORPHA:313855
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pn... ORPHA:47612
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritus, Splenomegaly... OMIM:607626
Noonan Syndrome 4
Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, Dental malocclusion, Wide mouth, Thick... OMIM:610733
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Periorbital edema, Thrombocytopenia, Splenomegaly, ... OMIM:617591
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia, Short stature OMIM:188150
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, Leukocytosis, BCGosis, Decreased proportion of cla... OMIM:619652
Specific Granule Deficiency 2
Absent neutrophil specific granules, Conical tooth, Thrombocytopenia, Recurrent pneumonia, Hirsut... OMIM:617475
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Al... ORPHA:50918
Shigellosis
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... ORPHA:810
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, A... ORPHA:163596
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Lamellar Ichthyosis
Short stature, Abnormality of the dentition, Pruritus, Dehydration, Everted lower lip vermilion, ... ORPHA:313
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Oral ulcer, Colitis, Lymphopenia, Thrombocytopenia OMIM:616744
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Decreased ci... OMIM:137100
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Pruritus, Myoca... ORPHA:829
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Hashimoto thyroiditis, Cerebral ... ORPHA:83601
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Abnormal oral cavity morphology, Infectio... ORPHA:42642
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilio... ORPHA:85321
Nephronophthisis
Anemia ORPHA:655
Mcdonough Syndrome
Mandibular prognathia, Short stature, Micrognathia, Open bite, Synophrys, Dental malocclusion, Sh... ORPHA:2471
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk... ORPHA:293173
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... OMIM:614034
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Alopecia, P... ORPHA:37042
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Angioedema, Chroni... ORPHA:3260
Pycnodysostosis
Ridged nail, Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Micrognathi... ORPHA:763
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis OMIM:619693
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Nail dystrophy... ORPHA:79405
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa... OMIM:619858
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia ORPHA:2582
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen... OMIM:612714
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... OMIM:214500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Seckel Syndrome 1
Pancytopenia, Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognathi... OMIM:210600
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Delayed puberty, Distichiasis, Anemia, Long philtrum ORPHA:2598
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop... OMIM:257200
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal natural k... ORPHA:158061
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharit... ORPHA:158029
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypopl... ORPHA:77297
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia, T... OMIM:612563
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemia, Hepatospl... ORPHA:96123
H Syndrome
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Short stature, Microcytic anemia,... ORPHA:168569
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hamamy Syndrome
Thin upper lip vermilion, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Micrognathia, Dent... OMIM:611174
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Polyhydramnios, Abnormality of the ... OMIM:115150
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... OMIM:224120
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Lymphopenia, Myositis, Skin rash, Follicular hyperplasia, Pustule,... OMIM:615934
Poikiloderma With Neutropenia
Skin rash, Short stature, Edema, Micrognathia, Sparse eyebrow, Splenomegaly, Carious teeth, Recur... OMIM:604173
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Periorbital edema, Lym... OMIM:618048
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... OMIM:618523
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Short stature, Splenomegaly, Enterocolitis, Anemia, Reduced natural kill... OMIM:616050
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe... ORPHA:85414
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Immunodeficiency 22
Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulating total IgM, D... OMIM:615758
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Elev... OMIM:615234
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... OMIM:617237
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Micrognathia, Hepatic melanin-like lysosomal pigmentation, Jaundice, Dehydr... OMIM:208085
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Nail dysplasia, Thrombocytopenia, Amelogenesis impe... OMIM:612783
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Long philtrum, Dehydration, Intrauterine growth retardation OMIM:618958
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Nail dystrophy... ORPHA:79406
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal h... ORPHA:634
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Incontinentia Pigmenti
Ridged nail, Conical tooth, Uveitis, Coarse hair, Oligodontia, Sparse hair, Atrophic, patchy alop... OMIM:308300
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Dehydration, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Long eyelashes OMIM:616069
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum, Small nail OMIM:300210
Takenouchi-Kosaki Syndrome
Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Increased mean platelet volume,... OMIM:616737
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Gastrointestinal infla... ORPHA:79411
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Short stature,... OMIM:190350
Familial Benign Copper Deficiency
Short stature, Acne, Early balding, Deep philtrum, Anemia ORPHA:1551
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Thin upper lip vermilion, Sparse eyelashes, Exaggerated cupid's bow, Highly ar... OMIM:619293
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Alopecia, Short stature, Abnormal hair pattern, Edema, Abnormality of ... ORPHA:2315
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia OMIM:618107
Spondyloenchondrodysplasia
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Short... ORPHA:1855
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Lymphocytosi... ORPHA:514
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Short stature, Widely spaced teeth, Dental malocclusion OMIM:616108
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... OMIM:614204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Erythroderma OMIM:604777
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per... ORPHA:1775
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Short stature, Fine hair, Premature graying of hair, Leu... OMIM:613990
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta... ORPHA:169090
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ... ORPHA:79153
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Mild short stature, High palate, Dental malocclusion OMIM:618292
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy, Pannic... OMIM:619183
Intellectual Developmental Disorder, Autosomal Recessive 39
Synophrys, Short stature, Dental malocclusion OMIM:615541
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Recurrent pneumonia, Dehydration, Thin ve... OMIM:214150
Rothmund-Thomson Syndrome
Aplastic anemia, Selective tooth agenesis, Facial edema, Neutropenia, Microdontia, Sparse hair, A... ORPHA:2909
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Dehydration, Nephriti... ORPHA:2552
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Inc... ORPHA:487796
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Short stature, Highly arched eyebrow, Open bite, Synophrys, Abnormality of... ORPHA:1327
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... OMIM:253260
Atelis Syndrome 1
Eczema, Carious teeth, Bronchiectasis, Anemia, Leukopenia, High palate, Long philtrum, Thrombocyt... OMIM:620184
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Transaldolase Deficiency
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Cirrhosis, Thrombocytopenia ORPHA:101028
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig... ORPHA:2643
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Keratoconjunctivitis, Growth delay, Thrombocytopenia, Perioral eczema ORPHA:79242
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... OMIM:614868
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Lymphadenopathy, Joint swelling, Panniculitis, Increased p... OMIM:617099
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Anemia ORPHA:75233
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Ab... OMIM:301000
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Xero... ORPHA:227990
Hemochromatosis, Type 3
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Short stature, Edema, Fluctuating splenomegaly, Fluctua... OMIM:610377
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Erythroderma, Lymphopenia, Hepatic cysts OMIM:617425
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Familial Renal Glucosuria
Moderate postnatal growth retardation, Elevated hemoglobin A1c, Dehydration ORPHA:69076
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Dental malocclusion, Atopic dermatitis, Widely-spaced maxillary central... OMIM:619719
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections... OMIM:300636
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Generalized edema OMIM:207731
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Edema, Leukocytosis, Jaundice, Lipid accumulation in hepatocyte... ORPHA:20
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Edema, Thrombocytopenia, Splenomegaly, Jaundice, Hepatospl... OMIM:603553
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thromb... ORPHA:83313
Osteootohepatoenteric Syndrome
Pruritus, Microvesicular hepatic steatosis, Dehydration, Cholestasis, Portal fibrosis, Hepatic fi... OMIM:619377
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Short stature, Moderately short stature, Dental malocclusion, High pal... OMIM:612350
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Uveitis, Abnormal palate morp... ORPHA:575
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Pruritus, Hypersplenism, Splenome... ORPHA:64743
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Proportionate short stature, Pustule, Recurrent tonsillitis, Atopic dermatitis, De... ORPHA:171876
Prolidase Deficiency
Hepatomegaly, Eczema, Micrognathia, Splenomegaly, Recurrent pneumonia, Crusting erythematous derm... OMIM:170100
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Aplastic anemia, Maculopapular exanthema... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Decreased circulating antibody level, Recurrent inf... OMIM:301045
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Oral mucosal blisters, Growth delay, Conjunctivitis, Nail dystrophy, Nail dysplasia, Na... OMIM:226600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Cleft palate, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Short stature, Seborrheic dermatitis, Splenomegaly, Micr... OMIM:301072
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Oral ulcer, Arthritis, Recurrent otitis media, Ma... OMIM:620321
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Abnormal dental morphology, Everted lower lip vermilion, Fingerna... ORPHA:2251
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Oral ulcer, Hepatosplenomegal... OMIM:260920
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Abnormality of the nail OMIM:302000
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Lymphaden... ORPHA:536
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... OMIM:616435
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, High, narrow palate, Conjunctivit... ORPHA:33364
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Edema, Splenomegaly, Cholestasis OMIM:105200
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Xero... ORPHA:227982
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Pruritus, Sp... ORPHA:98849
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Erythroderma, Abnormal oral cavity morpholog... ORPHA:2897
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Abnormality of t... OMIM:615952
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema OMIM:223350
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed p... OMIM:615704
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Median cleft lip and palate, Po... ORPHA:699
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Pleural ... OMIM:235200
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hennekam Syndrome
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Lymphedema, Hydrops fetalis, ... ORPHA:2136
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Leukopenia, G... ORPHA:520
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Dehydration, Microa... ORPHA:90038
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Severe short stature, Carious teeth, Severe po... OMIM:203550
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Pericardial effusion, Pe... ORPHA:77259
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... ORPHA:69735
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Micrognathia, Leukocytosis, Low anterior hairline, Acute leukemia, Ly... ORPHA:99812
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Noonan Syndrome 12
Polyhydramnios, Lymphopenia, Atopic dermatitis, Thrombocytopenia OMIM:618624
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Short stature, Abnormality of the dentition ORPHA:1858
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Ir... OMIM:212750
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... OMIM:615816
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retar... ORPHA:290
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Alopecia, Absent eyebrow, Hepatomegaly, Short stature, Erythrodontia, Splenomeg... OMIM:263700
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Leukocytosis, Dehydration, Thrombocytosis ORPHA:134
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... OMIM:601957
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Craniosynostosis 3
Low anterior hairline, Dental malocclusion OMIM:615314
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Long eyebrows, Long eyelashes, Delayed puberty, Sparse hair OMIM:275400
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Synophrys, Micronodular cirrhosis, Deep philtrum, Hepat... OMIM:606003
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Iridocyclitis, Kne... ORPHA:85408
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocy... OMIM:619151
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Dental crowding, Micrognathia, Dental malocclusion, Wide mo... OMIM:610883
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liv... OMIM:214900
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Mogs-Cdg
Hepatomegaly, Alopecia, Pulmonary edema, Edema, Polyhydramnios, Cardiomegaly, Hirsutism, Retrogna... ORPHA:79330
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Pruritus, Hypersplenism, Microvesicular hepatic steatosis, Vacuolated lym... ORPHA:275761
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pat... ORPHA:3051
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Bone marro... OMIM:614742
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Dend Syndrome
Downturned corners of mouth, Elevated hemoglobin A1c, Dehydration, Long philtrum ORPHA:79134
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, A... OMIM:615688
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclitis, Chronic mucocuta... OMIM:240300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Edema, Pruritus, Craniofacial osteoscler... ORPHA:324964
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... OMIM:269200
Transient Neonatal Diabetes Mellitus
Macroglossia, Intrauterine growth retardation, Dehydration ORPHA:99886
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros... OMIM:263200
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Microcytic anemia, Pruritus, Cirrhosis, Cholelithiasis ORPHA:79278
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... OMIM:613573
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe... OMIM:267700
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Congenital Ichthyosiform Erythroderma
Alopecia, Short stature, Keratitis, Pruritus, Erythroderma, Abnormality of the nail ORPHA:79394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... ORPHA:248
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Premature graying of hair, Anemi... ORPHA:3322
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... ORPHA:2985
Eosinophilic Gastroenteritis
Eosinophilia, Allergic rhinitis, Edema, Leukocytosis, Atopic dermatitis, Ascites, Anemia ORPHA:2070
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Short stature, Micrognathia, Hypopl... OMIM:257850
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Aphthous ulcer, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Colchicine Poisoning
Alopecia, Myocarditis, Leukocytosis, Dehydration ORPHA:31824
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Growth delay, Dehydration OMIM:251850
Muckle-Wells Syndrome
Short stature, Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis OMIM:191900
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Chronic Hiccup
Dehydration ORPHA:396
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Abnormality of the dentition, Growth delay, Long eyelashes, Sparse hair ORPHA:3363
L-Ferritin Deficiency
Alopecia OMIM:615604
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Dental malocclusion OMIM:608931
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil ... OMIM:169400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Gout, Neutropenia, Intrauterine growth retardation, Anemia OMIM:617056
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft lip, Cleft palate, Nail d... ORPHA:2890
Bone Marrow Failure Syndrome 3
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neu... OMIM:617052
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Abnormality of the dentition, Mandib... ORPHA:53
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short stature, Micrognathia, Diastema, Dental malocclusion, Malar flattening ORPHA:436245
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Short stature, C... OMIM:129400
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Kaposi Sarcoma
Generalized lymphadenopathy, Skin rash, Lymphedema, Abnormality of the spleen, Abnormality of the... ORPHA:33276
Martin-Probst Syndrome
Pancytopenia, Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide m... OMIM:300519
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Tr... ORPHA:39812
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... OMIM:618999
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Joint swell... OMIM:612852
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Polyhydramnios, Pruritus, Erythroderma, Alopecia of scalp OMIM:608649
Trichothiodystrophy 3, Photosensitive
Natal tooth, Brittle hair, Short stature, Carious teeth, Abdominal adhesions, Neutropenia, Eclabi... OMIM:616395
American Trypanosomiasis
Hepatomegaly, Skin rash, Edema, Periorbital edema, Myocarditis, Splenomegaly, Lymphadenopathy, In... ORPHA:3386
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Oral mucosal blisters, Pruritus, Carious teeth, Gastrointestinal ... ORPHA:79410
Ataxia-Telangiectasia
Hypopigmentation of hair, Short stature, Premature graying of hair, Delayed puberty, Lymphopenia,... ORPHA:100
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Mediastina... ORPHA:169105
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... ORPHA:3261
Tarp Syndrome
Extramedullary hematopoiesis, Abnormal hair pattern, Micrognathia, Pierre-Robin sequence, Alveola... ORPHA:2886
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Smooth philtrum, Craniofacial hyperostosis, Short stature, A... ORPHA:1133
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Macroglossia, Anemia, Delayed eruption of teeth OMIM:614450
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestina... ORPHA:90362
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Lymphopenia, Lymphedema ORPHA:1116
Chédiak-Higashi Syndrome
Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ... ORPHA:167
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short stature, Eczema, Thrombocytopenia, Reticulocytopenia, Gingival o... ORPHA:508542
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Eczema, Edema, Pruritus, Cholelithiasis OMIM:177000
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellularity, Nail dystrophy, I... OMIM:615190
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Thin upper lip vermilion, Polyhydramnios, Micrognathia, Deep philtrum, Low anterior... ORPHA:329178
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Carious teeth,... OMIM:612843
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Short stature, Conjunctivitis, Cirrhosis, Erythroderma, Sparse hair, Fragile nails OMIM:242150
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Erosion of oral mucosa, Recurrent skin infections, Pneumonia, Edema, Abnormal oral muco... ORPHA:79404
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Chronic mucocut... OMIM:158310
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Pachygyria, Abnormal natural kill... OMIM:615966
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair OMIM:242300
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Pericardial effusion, Angioedema, ... ORPHA:36412
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis OMIM:176100
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature ORPHA:66518
Monosomy 18P
Alopecia, Short stature, Micrognathia, Lymphedema, Carious teeth, Cleft palate, Low posterior hai... ORPHA:1598
Muenke Syndrome
Low anterior hairline, Dental malocclusion, High palate, Recurrent otitis media, Malar flattening OMIM:602849
Oslam Syndrome
Carious teeth, Increased mean corpuscular volume, Short stature, Abnormality of neutrophils ORPHA:2760
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Xerostomia, Nail dystrophy, Nail dysplasia, Glossitis, Anemia OMIM:175500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden... ORPHA:1572
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Anemia, Dehydration ORPHA:230
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... OMIM:152700
Kabuki Syndrome 2
Natal tooth, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Lo... OMIM:300867
Bazex Syndrome
Edema, Pruritus, Yellow nails, Nail dystrophy, Lip hyperpigmentation, Anemia ORPHA:166113
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Dyskeratosis Congenita, Digenic
Alopecia, Short stature, Sparse eyelashes, Abnormality of the dentition, Nail dystrophy, Intraute... OMIM:620040
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... ORPHA:379
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Cardiomegaly, Anemia, Oligohydramnios OMIM:620135
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Smooth philtrum, Megaloblastic anemia, Jaundice, Hydrops fetalis, Dehydration, Growth delay, Neut... ORPHA:79282
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Dehydration, Gingivitis, Per... ORPHA:534
Wilson Disease
Hepatomegaly, Pruritus, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Arthritis, Joint swe... ORPHA:905
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Hermansky-Pudlak Syndrome 2
Smooth philtrum, Chronic oral candidiasis, Absent platelet dense granules, Fair hair, Hepatomegal... OMIM:608233
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Short stature, Triangular mouth, Fine hair, Keratoconjunctivitis sic... OMIM:601675
Marburg Hemorrhagic Fever
Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Orchitis, Jaundic... ORPHA:99826
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... ORPHA:83471
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Short stature, Abnormal hair morphology, Abnormality of the nail, Generalize... ORPHA:317
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Nail dystrophy OMIM:616487
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Ascites, Anemia, Edema OMIM:603278
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ... ORPHA:346
Flynn-Aird Syndrome
Carious teeth, Alopecia, Alopecia of scalp OMIM:136300
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Icf Syndrome
Short stature, Abnormality of neutrophils, Micrognathia, Protruding tongue, Macroglossia, Lymphop... ORPHA:2268
Familial Cold Urticaria
Pruritus, Arthritis, Conjunctivitis, Dehydration ORPHA:47045
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... OMIM:616433
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Recon Progeroid Syndrome
Smooth philtrum, Prominence of the premaxilla, Short stature, Dental crowding, Hyperconvex thumb ... OMIM:620370
Enteric Anendocrinosis
Portal hypertension, Cholestatic liver disease, Dehydration ORPHA:83620
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Dehydration, Decreased carnitine le... OMIM:212140
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Refractory Celiac Disease
Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In... ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia OMIM:613845
Tufted Angioma
Anemia, Hemangioma of the lip, Thrombocytopenia, Hypertrichosis ORPHA:1063
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Prolidase Deficiency
Hepatomegaly, Abnormal fingernail morphology, Micrognathia, Pruritus, Splenomegaly, Carious teeth... ORPHA:742
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal fingernail morphology, Short stature, Abnormal dental morphology,... ORPHA:3079
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Cockayne Syndrome A
Mandibular prognathia, Hepatomegaly, Dry hair, Short stature, Delayed eruption of primary teeth, ... OMIM:216400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Postnatal growth retardation,... ORPHA:251028
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Rhizomelia, Polyhydramnios, Edema, Sparse eyebrow, Postnatal growth retardation... OMIM:302960
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Adams-Oliver Syndrome
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope... ORPHA:974
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Q Fever
Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial effusi... ORPHA:781
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... OMIM:617718
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Intrauterine g... OMIM:616353
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Renpenning Syndrome
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Severe short stature, Macrodontia... ORPHA:3242
Incontinentia Pigmenti
Uveitis, Orofacial cleft, Abnormal toenail morphology, Infectious encephalitis, Abnormality of th... ORPHA:464
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Nail dystrophy, Oral le... OMIM:618165
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Abnormality of the dentition, Premature graying of ... OMIM:613989
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ... ORPHA:32960
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Synophrys, Low anterior hairli... OMIM:617303
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Gingival bleeding, Neutrope... ORPHA:88
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Cockayne Syndrome B
Mandibular prognathia, Hepatomegaly, Dry hair, Severe short stature, Delayed eruption of primary ... OMIM:133540
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Bathing Suit Ichthyosis
Eclabion, Alopecia, Nail dystrophy, Erythroderma, Sparse hair ORPHA:100976
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Growth delay, Nail dystrophy... ORPHA:79409
Ichthyosis With Confetti
Short stature, Pruritus, Hypoplastic nipples, Erythroderma, Hypertrichosis OMIM:609165
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Oral mucosal blisters, Abnormality of the dentition, Nail dystrophy, Nail dysplasia ORPHA:79397
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Aplastic anemia, Alopecia totalis, Short stature, Abnormal dental enam... ORPHA:221008
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Pericardial effusion, Normochromic anemia, Cholelithiasis, Thrombocytopenia, In... OMIM:618775
Rubinstein-Taybi Syndrome 1
Dental crowding, Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Lo... OMIM:180849
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombo... ORPHA:293978
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Ollier Disease
Lymphangioma, Anemia ORPHA:296
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... OMIM:258360
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Apht... OMIM:249100
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Coarse hair, High palate, Long philtrum, Recurrent otitis media, Lymp... OMIM:605309
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ... ORPHA:83617
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Infectious encephalitis ORPHA:83317
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Periorbital edema, Splenomegaly, Ped... ORPHA:33226
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Lymphedema, Po... OMIM:163950
Harlequin Ichthyosis
Eclabion, Dehydration, Erythroderma ORPHA:457
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Growth delay, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiec... OMIM:226300
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Legionnaires Disease
Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Growth delay, Sparse body hair, Aplasia/Hypoplasia of... ORPHA:2850
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Low posterior hairline, N... OMIM:611881
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, Short stature, High palate, Intrauterine growth retardation ORPHA:50812
Dermotrichic Syndrome
Hyperconvex toenail, Proportionate short stature, Nail dystrophy, Anemia ORPHA:99688
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, M... ORPHA:3253
Mccune-Albright Syndrome
Pancytopenia, Dental malocclusion, Hepatocellular adenoma, Hepatitis, Cholestasis, Abnormal facia... ORPHA:562
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytop... OMIM:620365
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... OMIM:607823
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Persistence of primary teeth ORPHA:375
Three M Syndrome 2
Delayed eruption of teeth, Severe short stature, Short stature, Dental malocclusion, High palate,... OMIM:612921
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Aplastic anemia, Alopecia totalis, Short stature, Abnormal dental enam... ORPHA:221016
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Premature... OMIM:305000
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Short stature, Synophrys, Pierre-Robin sequence, Anter... OMIM:617877
Poems Syndrome
Edema, Pericardial effusion, Abnormality of skin physiology, Leukonychia, Lymphadenopathy, Thromb... ORPHA:2905
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Short stature, Micronodular cirrhosis, Abnormal granulocyte morphology, E... ORPHA:98907
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Oral ulcer, Leukopenia, Neu... ORPHA:811
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Moynahan Syndrome
Sparse hair, Alopecia, Short stature ORPHA:2574
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, Pustular rash, Bro... OMIM:619381
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombo... OMIM:185070
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious encephalitis... ORPHA:1304
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Erythroderma OMIM:618840
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... ORPHA:300298
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... OMIM:617388
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Short stature, Abnormality of the dentition, Synophrys, Thin vermilion border, Lymphopenia ORPHA:391307
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, High palate, Bone marrow hypocellularity, Small nail, Neutropenia, Thrombocytopenia OMIM:614520
B4Galt1-Cdg
Thin upper lip vermilion, Inflammatory abnormality of the skin, Hepatomegaly, Edema, Splenomegaly... ORPHA:79332
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Rec... OMIM:615577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Postnatal growth retardation, Rhizomelia, Dental malocclusion OMIM:608940
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Short stature, Eosinophilia, Seborrheic dermatitis, Edema of the dor... OMIM:274000
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Short Syndrome
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Birth length less than 3rd percenti... OMIM:269880
Hallermann-Streiff Syndrome
Sparse scalp hair, Natal tooth, Sparse eyelashes, Selective tooth agenesis, Proportionate short s... OMIM:234100
Acrootoocular Syndrome
Delayed eruption of teeth, Short stature, Micrognathia, Grayish enamel, High, narrow palate, Supe... ORPHA:2980
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... OMIM:618131
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairl... ORPHA:99843
Slc35A1-Cdg
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Palpeb... OMIM:137940
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Larsen-Like Syndrome
Short stature, Dental malocclusion, Cleft palate, Recurrent otitis media, Malar flattening OMIM:608545
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Carious teeth, Splenomegaly, Anemia, Calvarial osteosc... OMIM:259700
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia, Cardiomegaly OMIM:618838
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Dermatitis Herpetiformis
Pruritus, Eczema, Edema, Microcytic anemia ORPHA:1656
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Open mouth, Dental malocclusion OMIM:619149
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... ORPHA:678
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... ORPHA:1882
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Severe short stature, Rhizomelia, Micrognathia, Cleft palate, Malar flattening OMIM:215100
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopen... OMIM:620133
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Lymphadenopathy, Fine hair, Macroglossia, ... ORPHA:2221
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Bronchiectasis, Dehydration, Hepatosplenomegaly, Biliary cirrh... OMIM:219700
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Localized Scleroderma
Fasciitis, Abnormal skin adnexa morphology, Abnormality of the dentition, Dental malocclusion, Ab... ORPHA:90289
Hermansky-Pudlak Syndrome 9
Leukopenia, Recurrent skin infections, Thrombocytopenia OMIM:614171
Acute Interstitial Pneumonia
Pericardial effusion, Bronchiectasis, Lymphadenopathy, Peripheral edema, Reduced hematocrit, Pleu... ORPHA:79126
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Recurrent infections ORPHA:477814
Dengue Fever
Hepatomegaly, Skin rash, Pruritus, Leukopenia, Gingival bleeding, Ascites, Thrombocytopenia ORPHA:99828
Momo Syndrome
Delayed eruption of teeth, Short stature, Hyperconvex nail, Thick lower lip vermilion, Dental mal... ORPHA:2563
Cystinosis
Portal hypertension, Short stature, Dehydration, Delayed puberty ORPHA:213
Centrifugal Lipodystrophy
Alopecia, Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Short stature, Dental crowding, Cleft soft palate, Micrognathia, Abnorm... OMIM:616331
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Short stature, Eczema, Autoimm... ORPHA:391487
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Oral mucosal blisters, Anemia, Growth delay, Smooth tongue, ... ORPHA:79396
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormality of the den... ORPHA:2314
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Schimke Immuno-Osseous Dysplasia
Short stature, Minimal change glomerulonephritis, Thrombocytopenia, Disproportionate short-trunk ... ORPHA:1830
Cri-Du-Chat Syndrome
Microretrognathia, Thick lower lip vermilion, Orofacial cleft, Premature graying of hair, Growth ... OMIM:123450
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, Hypodontia, Enamel hypopla... OMIM:226650
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Paronychia, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Spondyloenchondrodysplasia With Immune Dysregulation
Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, T lymphocyto... OMIM:607944
Momo Syndrome
Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Taur... OMIM:157980
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Short stature, Neutropenia OMIM:618752
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Eczema, Proportionate short stature, Atopic dermatitis, Premature graying of hair, ... OMIM:620331
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Pruritus, Splenomegaly, Intrahepatic cholestasis, Intermittent jaund... OMIM:601847
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... ORPHA:98870
Neuroleptic Malignant Syndrome
Leukocytosis, Dehydration, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia ORPHA:94093
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Pruritus, Splenomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammation, Po... OMIM:602347
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveiti... OMIM:612387
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, De... ORPHA:97282
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Micrognathia, Postnatal growth retardation, Cardiomegaly, Oligohydramnios, Dehydrat... ORPHA:96191
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Thrombocytopenia OMIM:253270
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis... ORPHA:69126
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Short stature, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, ... OMIM:602782
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, R... ORPHA:221139
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, High anterior hai... OMIM:613680
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... OMIM:619849
Phelan-Mcdermid Syndrome
Palpebral edema, Lymphedema, Hypoplastic toenails, Micrognathia, Dental malocclusion, Long eyelas... OMIM:606232
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Pruritus, Pustule, Crusting erythematou... ORPHA:79481
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Skin rash, Short stature, Megaloblastic ane... OMIM:277380
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Dental crowding,... OMIM:614008
Cockayne Syndrome
Hepatomegaly, Dry hair, Severe short stature, Abnormal dental morphology, Delayed eruption of pri... ORPHA:191
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Micrognathia OMIM:617258
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... ORPHA:363444
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Short stature, Cheilitis, Bronchiectasis, Growth delay, Rec... OMIM:615468
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Spl... OMIM:616843
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... OMIM:612841
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Short stature, Anemia of inadequate production, Bone marrow hypocellulari... OMIM:614900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... OMIM:618727
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Dehydration OMIM:560000
Schimke Immunoosseous Dysplasia
Pancytopenia, Disproportionate short-trunk short stature, Abnormal T cell morphology, Anemia, Fin... OMIM:242900
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Short stature, Polyhydramnios, Lymphedema, Highly arched eyebro... OMIM:613563
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathi... OMIM:608013
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... OMIM:616367
Myopathy, Centronuclear, X-Linked
High palate, Polyhydramnios, Dental malocclusion OMIM:310400
Glycogen Storage Disease Ixc
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ... OMIM:613027
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... OMIM:614564
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy, Furro... ORPHA:2483
Noonan Syndrome 14
Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, High, narrow palate, Low posterior hai... OMIM:619745
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Megaloblastic anemia, Cleft palate, Growth delay, Reduced number of intrahepatic bile ... ORPHA:79284
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Chronic oral can... ORPHA:723
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Onycholysis, Neoplasm of the oral ... ORPHA:525
Secondary Short Bowel Syndrome
Growth delay, Cholestasis, Enterocolitis, Dehydration ORPHA:95427
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen OMIM:223360
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Short stature, Accessory oral frenulum, Hypoplasia of teeth ORPHA:88630
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown dis... OMIM:104570
Central Diabetes Insipidus
Dehydration ORPHA:178029
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Abnormality of the dentition, Growth delay, Sparse body hair ORPHA:177
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Short stature, Hydrops fetalis, Hepatosplenomega... ORPHA:333
Kury-Isidor Syndrome
Alopecia, Tented upper lip vermilion, Growth delay, High palate, Widely spaced teeth, Long philtr... OMIM:619762
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology... ORPHA:2457
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microretrognathia, Splenomegaly, Microvesicular hepatic steatosis... OMIM:619418
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Edema, Peri... OMIM:615846
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Dehydration OMIM:602722
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Short stature, Carious teeth, Hypodontia, Delayed puberty OMIM:612079
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Inflammation of the large intestine, Ascites, Lymphadenopathy ORPHA:26790
Malt Lymphoma
Mediastinal lymphadenopathy, Posterior uveitis, Anemia, Lymphadenopathy ORPHA:52417
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Congenital Tufting Enteropathy
Orofacial cleft, Dehydration, Arthritis, Cholestatic liver disease, Punctate keratitis ORPHA:92050
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Anemia ORPHA:3405
Bloom Syndrome
Micrognathia, Paronychia, Uveitis, Otitis media, Decreased proportion of CD4-positive T cells, Ab... ORPHA:125
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia, Pleural empyema, P... ORPHA:36238
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Vici Syndrome
Hypopigmentation of hair, Median cleft lip, Everted upper lip vermilion, Left ventricular hypertr... OMIM:242840
Mirage Syndrome
Short stature, Thrombocytopenia, Leukopenia, Aspiration pneumonia, Intrauterine growth retardatio... OMIM:617053
Melioidosis
Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess... ORPHA:31202
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Sparse eyelashes, Micrognathia, ... OMIM:209885
Diamond-Blackfan Anemia 7
Macrocytic anemia, Polyhydramnios, Cleft palate, Growth delay, Increased mean corpuscular volume,... OMIM:612562
Hypomelanosis Of Ito
Alopecia, Thick lower lip vermilion, Irregularly spaced teeth OMIM:300337
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Pleural effusion, Pancreatitis, Pulmonary e... ORPHA:188
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Cutaneous Mastocytoma
Maculopapular exanthema, Pruritus, Angioedema, Lymphadenopathy, Peau d'orange ORPHA:79455
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, G... OMIM:615508
Distal Renal Tubular Acidosis
Growth delay, Hemolytic anemia, Short stature, Dehydration ORPHA:18
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Tubulointerstitial nephritis, Abnormal lymph n... ORPHA:85450
Schöpf-Schulz-Passarge Syndrome
Alopecia, Premature loss of primary teeth, Hypodontia, Sparse hair, Aplasia/Hypoplasia of the eye... ORPHA:50944
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Anemia, Nail d... OMIM:612199
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Carious teeth, Birth length less than 3rd percentile, Intrauterine g... OMIM:244460
Sarcoidosis
Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hemolytic anemia, Alop... ORPHA:797
Aspergillosis
Eosinophilia, Meningitis, Increased circulating IgE level, Unusual CNS infection, Invasive pulmon... ORPHA:1163
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abscess, Mediastinal lymp... ORPHA:228123
Neutrophilic Dermatosis, Acute Febrile
Anemia, Cystic acne, Panniculitis, Acne inversa OMIM:608068
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Short stature, Dental crowding, Polyhydramnios, Microgna... OMIM:300373
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Short stature, Micrognathia, Herpes simplex encephalitis... OMIM:233600
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic system, Enlarg... ORPHA:464329
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Sple... ORPHA:53035
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Micrognathia, Sparse eyebrow, Dent... ORPHA:444072
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Gastritis, Hepatoblastoma, Increased mean p... ORPHA:84064
Fanconi Anemia, Complementation Group R
Growth delay, Bone marrow hypocellularity, Anemia, Agenesis of permanent teeth OMIM:617244
Whipple Disease
Hepatomegaly, Myositis, Pericarditis, Myocarditis, Splenomegaly, Mediastinal lymphadenopathy, Uve... ORPHA:3452
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Er... ORPHA:79277
Lymphatic Filariasis
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne... ORPHA:2035
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis... OMIM:620233
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Noni... ORPHA:95159
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Liver abscess, Lung abscess, Leukocytosis, Pleural empyema, Constrictive pericardi... ORPHA:67
22Q11.2 Deletion Syndrome
Polyhydramnios, Micrognathia, Hypoplasia of the thymus, Short philtrum, Chronic otitis media, Acn... ORPHA:567
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Cerebral edema ORPHA:1930
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Jaundice, Growth del... OMIM:608885
Digeorge Syndrome
Acne, Short stature, Seborrheic dermatitis, Micrognathia, Thrombocytopenia, Splenomegaly, Recurre... OMIM:188400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent herpes, Liver abscess, Recurrent urinary tract infect... ORPHA:183675
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Edema, Portal hyper... OMIM:619487
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... ORPHA:573
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Polyhydramnios, Micrognathia, Postnatal growth retardatio... ORPHA:1655
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Oral ulcer, Arthritis, Inflammation of the large ... OMIM:301074
Pleural Mesothelioma
Hepatomegaly, Pleural effusion, Lymphadenopathy ORPHA:50251
Robinow Syndrome, Autosomal Dominant 3
Short stature, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, A... OMIM:616894
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Abnormality of hair tex... ORPHA:667
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Conical tooth, Abnormality of the dentition, Fine hair, Intrauterine growth retardation... ORPHA:228390
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:615546
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Oral mucosal blisters, Pruritus, Pustule, Ul... ORPHA:555905
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Periorbital edema, Cervical lymphaden... OMIM:142680
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... OMIM:101800
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Dehydration ORPHA:556030
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A... ORPHA:51636
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Smooth philtrum, Severe B lymphocytopenia, Portal hypertension, Micrognathia, M... OMIM:620005
Leigh Syndrome
Alopecia, Eczema, Growth delay, Neutropenia, Intrauterine growth retardation, Frontal hirsutism, ... ORPHA:506
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Splenomegaly, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Spars... OMIM:222700
Kawasaki Disease
Pericarditis, Abnormality of nail color, Skin rash, Edema, Myocarditis, Leukocytosis, Cervical ly... ORPHA:2331
Sepsis In Premature Infants
Hepatomegaly, Edema, Splenomegaly, Leukocytosis, Jaundice, Enterocolitis, Anemia, Neutropenia, Th... ORPHA:90051
Orthostatic Hypotension 2
Anemia OMIM:618182
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Facial edema, Periorbital edema, Retroperitoneal fibrosis, Xerostomia,... ORPHA:449432
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, ... ORPHA:436252
Insulin-Resistance Syndrome Type B
Alopecia, Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Hi... ORPHA:2298
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Hereditary Orotic Aciduria
Splenomegaly, Abnormal toenail morphology, Anemia ORPHA:30
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Cleft palate, Abnormal toenail morphology ORPHA:494
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Severe... ORPHA:440713
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:601390
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Growth delay, Nail dystroph... ORPHA:1867
Oslam Syndrome
Anemia OMIM:165660
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Short stature, Short lingual frenulum, Micrognathia, Diastema, Sparse a... ORPHA:96121
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Pursed lips, Short stature, Polyhydramnios, Micrognathia, Narrow mou... ORPHA:800
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... OMIM:617394
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal edema, Lympha... ORPHA:342
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... ORPHA:90340
Harrod Syndrome
Intrauterine growth retardation, Dental malocclusion, High palate, Narrow mouth ORPHA:2115
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short statu... OMIM:268400
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Carious teeth, Cleft palate, Ev... ORPHA:2316
Carney Triad
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy ORPHA:139411
Macs Syndrome
Eclabion, Irregular dentition, Alopecia, Palpebral edema, Short stature, Micrognathia, Sparse eye... OMIM:613075
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Dehydration OMIM:203400
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Short stature, Coarse hair, Everted lower lip vermilion, Nail dystrophy, ... ORPHA:75389
Cerebellofaciodental Syndrome
Short stature, Sparse eyebrow, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of perman... OMIM:616202
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, High p... ORPHA:124
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol... OMIM:610629
Necrotizing Enterocolitis
Edema, Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombocytopenia ORPHA:391673
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture... ORPHA:2108
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Nai... ORPHA:31150
Corticosterone Methyloxidase Type Ii Deficiency
Growth delay, Dehydration OMIM:610600
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Gingival bleeding... OMIM:153670
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Dehydration, Growth delay, D... OMIM:219800
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Adams-Oliver Syndrome 2
Alopecia, Micrognathia, Low anterior hairline, Small nail, Oligohydramnios OMIM:614219
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Dental malocclusion, Narrow ja... OMIM:618975
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Polyhydramnios, Seborrheic dermatitis, Micrognathia, Microvesicular hepatic steatos... OMIM:300868
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Micrognathia, Persistence of primary teeth, Abnormalit... ORPHA:2785
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Polyhydramnios, Anemia, Leukopenia, Bone marrow hypocellularity, Intrau... OMIM:603467
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... ORPHA:659
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Trismus, Anemia, Recurrent aspiration pneumonia, Thrombocytopenia OMIM:230900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, White hair, Fine hair, Lymphopenia, Anemia ORPHA:935
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Hype... ORPHA:480520
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Glossitis, Short stature, Pustule, Paronychia... ORPHA:37
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia OMIM:618835
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia OMIM:618839
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Anemia OMIM:620366
Diamond-Blackfan Anemia 10
Macrocytic anemia, Short stature, Micrognathia, Reticulocytopenia, Cleft palate, Growth delay, St... OMIM:613309
Pachyonychia Congenita
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp... ORPHA:2309
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Palpebral edema, Sh... ORPHA:2067
Robinow Syndrome
Short stature, Dental crowding, Micrognathia, Persistence of primary teeth, Tooth malposition, Gi... ORPHA:97360
Short Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:3163
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Familial Tumoral Calcinosis
Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ... ORPHA:53715
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Diamond-Blackfan Anemia 21
Short stature, Micrognathia, Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, ... OMIM:620072
Hajdu-Cheney Syndrome
Short stature, Short nail, Micrognathia, Absent frontal sinuses, Synophrys, Hirsutism, Dental mal... OMIM:102500
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Acne, Dental malocclusion, Cleft palate, Narrow... OMIM:101200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Cleft soft palate, Leukocytosis, Downturned corners of mouth, Intrauteri... OMIM:619321
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Gomez-Lopez-Hernandez Syndrome
Alopecia, Short stature, Thin vermilion border, High palate, Malar flattening, Smooth philtrum OMIM:601853
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Rhizomelia, Short stature, Abnormal denta... ORPHA:666
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Dental crowding, Micrognathia, Hypoplasia of teeth, Growth delay, High pa... OMIM:608612
Avian Influenza
Pneumonia, Thrombocytopenia, Hepatitis, Leukopenia, Conjunctivitis, Pleural effusion, Lymphopenia... ORPHA:454836
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Cardiomegaly, Premature graying of hair, Conjunctivitis, Hepatomegaly, Short s... OMIM:256040
Oliver Syndrome
Mandibular prognathia, Supernumerary nipple, Dental malocclusion, Hyperconvex fingernails, High p... ORPHA:2920
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenomegaly, Delayed... OMIM:232220
Alstrom Syndrome
Hepatic steatosis, Alopecia, Chronic active hepatitis, Hepatomegaly, Short stature, Abnormality o... OMIM:203800
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Sclerosteosis 1
Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Nail ... OMIM:269500
Lujo Hemorrhagic Fever
Skin rash, Maculopapular exanthema, Facial edema, Myocarditis, Fulminant hepatitis, Leukocytosis,... ORPHA:319213
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Multiple Pterygium Syndrome, Escobar Variant
Short stature, Micrognathia, Dental malocclusion, Hydrops fetalis, Cleft palate, Downturned corne... OMIM:265000
Turnpenny-Fry Syndrome
Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Dental crowding, Polyhydramni... OMIM:618371
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Salmonella osteomyelitis OMIM:615978
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Multiple Myeloma
Splenomegaly, Pleural effusion, Anemia, Lymphadenopathy ORPHA:29073
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Chronic otit... ORPHA:2750
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Gingivitis, Rectal abscess, Perio... OMIM:116920
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Disproportionate short-limb short stature, Sparse hair, Intrauterine growth retard... OMIM:616541
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Microretrognathia, Alopec... OMIM:311200
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Short stature, Persistence of hemoglobin F, A... OMIM:260400
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Abnormal dental enamel morphology, Moderate postnatal growth reta... ORPHA:1005
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Abnormal facial skeleton ... ORPHA:548
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... ORPHA:978
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Micrognathia, Growth delay, Anemia OMIM:613951
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Everted lower lip vermilion, Hepatic steatosis OMIM:275630
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Exaggerated cupid's bow, Supernumerary nipple, Open bite, High,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Exaggerated cupid's bow, Supernumerary nipple, Open bite, High,... ORPHA:352665
Reynolds Syndrome
Hepatomegaly, Pruritus, Splenomegaly, Erythema nodosum, Jaundice, Biliary cirrhosis, Cholestasis,... OMIM:613471
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Polyhydramnios, Hepatoblastoma, Hepatomegaly, Exaggerated median tongue fu... OMIM:312870
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... OMIM:211380
Congenital Disorder Of Glycosylation, Type If
Thin vermilion border, Erythroderma OMIM:609180
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Dehydration OMIM:615453
Candidiasis, Familial, 8
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis OMIM:615527
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Recurrent infections, Decreased circulating an... OMIM:300972
Hereditary Mucoepithelial Dysplasia
Alopecia, Gingival overgrowth, Furrowed tongue, Fine hair, Sparse hair ORPHA:1839
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Hepatomegaly, Dental crowding, Micrognathia, Postnatal growth retard... OMIM:248370
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... OMIM:300291
Menkes Disease
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation OMIM:309400
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion, Bronchiectasis, Lymphadenopathy ORPHA:411703
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Flynn-Aird Syndrome
Carious teeth, Alopecia ORPHA:2047
Crimean-Congo Hemorrhagic Fever
Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Pericar... ORPHA:99827
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Delayed menarche, Iridocyclitis, Alopecia, Pancreatitis ORPHA:412057
Hydatidiform Mole
Anemia ORPHA:99927
Transketolase Deficiency
Hepatomegaly, Proportionate short stature, Seborrheic dermatitis, Uveitis, Conjunctivitis ORPHA:488618
Ichthyosis, Congenital, Autosomal Recessive 9
Eclabion, Erythroderma OMIM:615023
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemia, Edema ORPHA:329971
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hydrops fetalis, Anemia, Growth d... ORPHA:77261
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thic... OMIM:230740
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Conjunctivitis, Dental malocclusion OMIM:615560
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Micrognathia, Abnormal hair morphology, Narrow mouth, Abnormality of the... ORPHA:90154
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Acne, Micrognathia, Dental malocclusion, Gingival overgrowth, Growth de... OMIM:249420
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Keutel Syndrome
Recurrent otitis media, Alopecia, Short stature, Recurrent sinusitis ORPHA:85202
Oculocerebrocutaneous Syndrome
Alopecia, Cleft palate OMIM:164180
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Jaundice, Hepatospleno... ORPHA:168577
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Malar flattening, Dental malocclusion, Small nail, Micrognathia OMIM:608257
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Short stature, Highly arched eyebrow, Trichiasis, Micrognathia, Neutr... OMIM:618460
Adrenal Hypoplasia, Congenital
Dehydration, Delayed puberty OMIM:300200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Selective tooth agenesis, Absent eyelas... OMIM:106260
Bresek Syndrome
Growth delay, Intrauterine growth retardation, Alopecia, Cleft palate ORPHA:85284
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, He... ORPHA:79259
Au-Kline Syndrome
Supernumerary nipple, Dental malocclusion, Bifid tongue, Cleft palate, Downturned corners of mout... OMIM:616580
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, Oligohydramnios, Cleft palate, Absen... ORPHA:158687
Ane Syndrome
Alopecia, Short stature, Carious teeth, Hypodontia, Delayed puberty, Premature loss of teeth ORPHA:157954
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Cholangitis, Eosinophilia, Keratitis, Orchitis, Periorbital edema, Re... ORPHA:449563
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Sparse sca... OMIM:308205
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Anemia OMIM:612301
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Everted lower lip vermilion OMIM:242510
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia,... OMIM:227645
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti... ORPHA:369950
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Dental crowding, Polyhydramni... OMIM:300990
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Hypoplastic toenai... ORPHA:544488
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Sh... OMIM:264090
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Neoplasm of the thymus, In... ORPHA:99889
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Growth delay, Arthritis, Recurrent aphthous stomatitis ORPHA:343
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Trichorrhexis nodosa, Small nail, Recurrent otitis media, Microdontia, Pili torti, Frag... OMIM:261990
Reni Syndrome
Lymphopenia, Edema OMIM:617575
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Satoyoshi Syndrome
Alopecia, Short stature, Alopecia universalis OMIM:600705
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High palate OMIM:182212
Igg4-Related Kidney Disease
Lymphadenitis, Pedal edema, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abnormal m... ORPHA:449395
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Short stature, Micrognathia, Absent eyelashes, Small nail, Intrauterine... ORPHA:166035
Camurati-Engelmann Disease
Mandibular prognathia, Carious teeth, Bone marrow hypocellularity, Delayed puberty, Anemia OMIM:131300
Monosomy 22Q13.3
Recurrent skin infections, Palpebral edema, Dental crowding, Lymphedema, Hypoplastic toenails, De... ORPHA:48652
Giant Cell Arteritis
Alopecia, Pericarditis, Mediastinal lymphadenopathy, Arthritis, Glossitis ORPHA:397
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hirsutism, Dehydration ORPHA:90791
Faciodigitogenital Syndrome, Autosomal Recessive
Proportionate short stature, Trismus, Widow's peak, Deep philtrum, Dental malocclusion, Narrow pa... OMIM:227330
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Tooth agenesis, Nail dystrophy, Woolly hair OMIM:605676
Diarrhea 1, Secretory Chloride, Congenital
Growth delay, Polyhydramnios, Dehydration OMIM:214700
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Persistence of primary teeth, Postnatal growth retardation, Carious teeth, Growth ... ORPHA:93325
Pyomyositis
Leukocytosis, Recurrent cutaneous abscess formation, Myositis ORPHA:764
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, High palate, Patchy alopecia, Short stature ORPHA:85279
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Short stature, Pneumonia, Highly arched eyebrow, Trichiasis, Polyhydramnios, Pilomat... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Short stature, Pneumonia, Highly arched eyebrow, Trichiasis, Polyhydramnios, Pilomat... ORPHA:353277
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Anemia, Hepatomegaly OMIM:239200
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Fine hair, Widely spaced teeth... OMIM:613451
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea... ORPHA:565612
Chikungunya
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Facial edema, Crusting erythemato... ORPHA:324625
Holoprosencephaly 9
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis... OMIM:610829
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Iridocyclitis, Spl... OMIM:181000
Ivic Syndrome
Leukocytosis, Severe short stature, Thrombocytopenia ORPHA:2307
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Abnormal dental enamel morphology, Hypoplastic fingernail ORPHA:257
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Facial edema, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Lymph... ORPHA:79078
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Iron deficiency anemia, Edema, Lymphadenopathy ORPHA:100078
Hutchinson-Gilford Progeria Syndrome
Growth delay, Malar flattening, Alopecia, Micrognathia OMIM:176670
Nephronophthisis 4
Growth delay, Anemia OMIM:606966
Pyruvate Carboxylase Deficiency
Growth delay, Hepatomegaly, Dehydration ORPHA:3008
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Abnormal hair morphology, Growth delay, Everted lower lip vermilion, Small nail OMIM:242100
Fraser Syndrome 1
Absent eyebrow, Dental crowding, Cleft upper lip, Absent eyelashes, Extension of hair growth on t... OMIM:219000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Abnormality of the dentition, Absent eyelas... ORPHA:90153
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... ORPHA:1507
Bartsocas-Papas Syndrome
Median cleft lip, Alopecia totalis, Micrognathia, Hypoplastic toenails, Cleft palate, Sparse or a... ORPHA:1234
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Downturned corners of mouth, Intrauterine growth retardation, Pancreatic hypoplasia,... ORPHA:99885
Senior-Boichis Syndrome
Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole... ORPHA:84081
Coffin-Lowry Syndrome
Mandibular prognathia, Short stature, Highly arched eyebrow, Thick lower lip vermilion, Dental ma... OMIM:303600
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Eclabion, A... ORPHA:2269
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Focal Dermal Hypoplasia
Ridged nail, Delayed eruption of teeth, Brittle hair, Short stature, Supernumerary nipple, Cleft ... OMIM:305600
Alternating Hemiplegia Of Childhood
Downturned corners of mouth, Exaggerated cupid's bow, Thin eyebrow, Dehydration ORPHA:2131
Cushing Disease
Sparse scalp hair, Acne, Intra-oral hyperpigmentation, Leukocytosis, Recurrent cutaneous fungal i... ORPHA:96253
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Short stature, Pneumonia, Dental crowding, Carious teeth, Pilomatrixoma, Supernumera... ORPHA:353281
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Dental malocclusi... ORPHA:73223
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Furrowed tongue, High palate, Narrow mouth,... OMIM:158350
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Cholera
Aspiration pneumonia, Dehydration ORPHA:173
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Long uvula, Micrognathia, Pericardial effusion, Tooth malposition, Narrow palate, Kerat... ORPHA:536532
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Short stature, Abnormal dental morphology, Abnormality of... ORPHA:158668
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple, Abnormality of the dentition ORPHA:3224
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Hirsutism OMIM:615830
Arteriosclerosis, Severe Juvenile
Short stature, Anemia, Delayed puberty OMIM:208060
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthritis, Eczematoid dermatitis, High palate, Seborrheic dermatitis OMIM:259100
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Limb-Mammary Syndrome
Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr... ORPHA:69085
Autosomal Dominant Robinow Syndrome
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... ORPHA:3107
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis OMIM:210210
Olmsted Syndrome 2
Pruritus, Cheilitis, Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Growth delay, Enamel hypoplasia, Alopecia universalis OMIM:277440
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Enlarged kidney, Seborrheic dermatitis ORPHA:276280
Isotretinoin-Like Syndrome
Micrognathia, Postnatal growth retardation, Cleft palate, Intrauterine growth retardation, Lympho... ORPHA:2306
Nephronophthisis 11
Growth delay, Hepatic fibrosis, Anemia OMIM:613550
Plague
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Splenome... ORPHA:707
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Ca... ORPHA:2908
Urachal Cyst
Leukocytosis, Peritonitis, Abdominal mass, Abscess ORPHA:488
Nephronophthisis 1
Growth delay, Anemia OMIM:256100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... OMIM:276700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Short stature, Micrognathia, Hy... OMIM:300534
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Short stature, Persistence of primary teeth, Supernumerary tooth, Subm... OMIM:300166
Oligomeganephronia
Dehydration, Micrognathia ORPHA:2260
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Alopecia, Abnormality of dental color, Short stature OMIM:163200
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Thyroid Lymphoma
Hashimoto thyroiditis, Lymphadenopathy ORPHA:97285
Carpenter Syndrome 2
Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, High, narrow palate, Carious teeth, ... OMIM:614976
Williams Syndrome
Micrognathia, Periorbital edema, Hypoplastic toenails, Cardiomegaly, Microdontia, Chronic otitis ... ORPHA:904
Developmental And Epileptic Encephalopathy 50
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis OMIM:616457
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec... ORPHA:90363
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Short stature, Premature loss of primary teeth, Abnormality of the dentition ORPHA:93160
Turner Syndrome Due To Structural X Chromosome Anomalies
Lymphedema, Hypoplastic toenails, High, narrow palate, Micrognathia, Gastrointestinal inflammatio... ORPHA:99413
Mosaic Monosomy X
Lymphedema, Hypoplastic toenails, High, narrow palate, Micrognathia, Gastrointestinal inflammatio... ORPHA:99228
Monosomy X
Lymphedema, Hypoplastic toenails, High, narrow palate, Micrognathia, Gastrointestinal inflammatio... ORPHA:99226
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia univers... OMIM:614594
Turner Syndrome
Lymphedema, Hypoplastic toenails, High, narrow palate, Micrognathia, Gastrointestinal inflammatio... ORPHA:881
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Short stature, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Short stature, Hypertonic dehydration OMIM:304800
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Cleft lip, Synophrys, Dental malocclusion, Cleft palate, Hypoplasia o... OMIM:603457
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri... ORPHA:509
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Short stature, Dental crowding, Hypoplasia of t... OMIM:614188
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Nail bed te... ORPHA:90291
Oculocerebrocutaneous Syndrome
Wide mouth, Alopecia, Abnormal fingernail morphology, Orofacial cleft ORPHA:1647
Fibrodysplasia Ossificans Progressiva
Alopecia, Widely spaced teeth OMIM:135100
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100075
Gastrointestinal Stromal Tumor
Abnormality of the liver, Skin rash, Anemia ORPHA:44890
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Alopecia totalis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis ORPHA:3453
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Alopecia, Urinary bladder inflammation, Xerostomia, Bronchiectasis, Arth... ORPHA:99921
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Focal Dermal Hypoplasia
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:2092
Renal Hypoplasia
Dehydration ORPHA:93101
Proximal Renal Tubular Acidosis
Short stature, Mild postnatal growth retardation, Enamel hypomineralization, Dehydration, Growth ... ORPHA:47159
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Bronchiectasis, Inflammation of the large intestine, Lymphopenia, Absent uvula OMIM:619708
Olmsted Syndrome, X-Linked
Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis OMIM:300918
African Trypanosomiasis
Hepatomegaly, Pericarditis, Alopecia, Keratitis, Myocarditis, Pruritus, Splenomegaly, Jaundice, H... ORPHA:3385
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow OMIM:610768
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Relapsing Polychondritis
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... ORPHA:728
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Alopecia ORPHA:453533
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Pedal edema, Lymphadenopathy, Pleural effusion... ORPHA:199241
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin... OMIM:613385
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula OMIM:601552
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hepatic steatosis, Alopecia, Acne, Hirsutism ORPHA:189427
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hashimoto thyroiditis ORPHA:3143
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Faciocardiomelic Syndrome
Micrognathia, Dental malocclusion, Wide mouth, Short eyelashes, Long philtrum, Hyperplasia of the... OMIM:612731
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Thin upper lip vermilion, Sparse facial hair, Sparse eyebr... ORPHA:2232
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Premature loss of teeth, Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration, Delayed puberty ORPHA:168558
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Short stature, Portal hypertension, Microdontia, Thick lower lip v... OMIM:194050
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration, Delayed puberty ORPHA:289548
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Acne, Frontal balding, Dehydration, Hirsutism ORPHA:90794
Infantile Nephropathic Cystinosis
Growth delay, Dehydration ORPHA:411629
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Insulinoma, Gingival fibromatosis, Thymoma, Dehydration ORPHA:652
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Palpebral edema, Alopecia, Pruritus, Arthritis ORPHA:93672
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Micrognathia, Absent eyelashes, Hy... OMIM:263650
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Short stature, Alopecia universalis ORPHA:3130
Bloom Syndrome
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Decreased circulating tota... OMIM:210900
Viss Syndrome
Chronic gastritis, Polyhydramnios, Micrognathia, High, narrow palate, High palate, Broad uvula, B... OMIM:619472
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Short stature, Micrognathia, Abnormal hair morphology, Abnormal... ORPHA:79474
Congenital Disorder Of Glycosylation, Type Ig
Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circulating total Ig... OMIM:607143
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis OMIM:167100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Short stature, Acne, Hirsutism ORPHA:90795
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Growth delay, Short stature, Polyhydramnios ORPHA:223
Juvenile Nephropathic Cystinosis
Growth delay, Dehydration ORPHA:411634
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Oral mu... ORPHA:95455
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Pruritus, Orchitis, Urin... ORPHA:556
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Adrenoleukodystrophy
Alopecia OMIM:300100
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis of the small joints of the hand, Osteoarthritis, Knee osteoarthritis, Dental maloc... ORPHA:284984
Xeroderma Pigmentosum
Craniofacial hyperostosis, Alopecia, Short stature, Abnormality of the dentition, Keratitis, Thin... ORPHA:910
Biotinidase Deficiency
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis ORPHA:79241
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Recurrent pneumonia, Decreased circulating IgA level, Recurrent infections OMIM:613327
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Fraser Syndrome
Dental crowding, Abnormal hair pattern, Cleft upper lip, Dental malocclusion, Orofacial cleft, Hi... ORPHA:2052
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... ORPHA:447
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Distal Deletion 19P
Alopecia, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Thick eyebrow ORPHA:96129
Bartter Syndrome, Type 1, Antenatal
Short stature, Polyhydramnios, Dehydration OMIM:601678
Lymphangioleiomyomatosis
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... ORPHA:538
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Jaundice, Pancreatic hyperplasia, Thro... ORPHA:99829
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Abnormal dental morphology, Eczema, Postnatal growth retardation, Everted lower lip ver... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Abnormal dental morphology, Eczema, Postnatal growth retardation, Everted lower lip ver... ORPHA:363958
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Short stature, Micrognathia, Cleft upper lip, Mild intrauterine growth retardation, Sma... OMIM:308050
Bartter Syndrome, Type 2, Antenatal
Short stature, Polyhydramnios, Dehydration OMIM:241200
Loeys-Dietz Syndrome 3
Left ventricular hypertrophy, Eosinophilic infiltration of the esophagus, Osteoarthritis, Knee os... OMIM:613795
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Abnormality of the nail ORPHA:428
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Severe short stature, Micrognathia, Loss of eyelashes, Submucous cleft hard palate, Cle... ORPHA:2636
Primary Fanconi Renotubular Syndrome
Growth delay, Dehydration ORPHA:3337
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Absent eyebrow, Dental crowding, Alopecia totalis, Short lingual frenu... ORPHA:740
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Pneumonia, Recurrent pneumonia, Arthritis, Otitis med... ORPHA:420741
Bartter Syndrome Type 4
Polyhydramnios, Dehydration ORPHA:89938
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Trichinellosis
Increased circulating IgE level, Meningitis ORPHA:863
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... OMIM:223370
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... ORPHA:363618
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder, Micrognathia, Growth delay, High palate, Short philtrum,... ORPHA:96176
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Oral ulcer, Arthritis, Patchy alopecia, Iritis OMIM:109650
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, P... OMIM:181270
Encephalocraniocutaneous Lipomatosis
Alopecia OMIM:613001
Vascular Ehlers-Danlos Syndrome
Alopecia, Short stature, Premature loss of primary teeth, Abnormality of hair texture, Abnormal e... ORPHA:286
Steinert Myotonic Dystrophy
Alopecia, Tented upper lip vermilion, Polyhydramnios, Abnormality of the tongue muscle, Early bal... ORPHA:273
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Linear Nevus Sebaceus Syndrome
Growth delay, Alopecia ORPHA:2612
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Pallister-Killian Syndrome
Edema of the dorsum of feet, Tented upper lip vermilion, Polyhydramnios, Micrognathia, Webbed nec... OMIM:601803
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Craniofacial hyperostosis, Alopecia ORPHA:2396
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Sympathetic Ophthalmia
Alopecia, Posterior uveitis, Poliosis, Macular edema ORPHA:79098
Charge Syndrome
Polyhydramnios, Cleft upper lip, Postnatal growth retardation, Micrognathia, Cleft palate, Webbed... OMIM:214800
Trichotillomania
Alopecia OMIM:613229
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Anodontia, Fine hair OMIM:241080
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Woodhouse-Sakati Syndrome
Alopecia, Growth delay, Delayed puberty, Aplasia/Hypoplasia of the eyebrow, Anodontia ORPHA:3464
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Cleft upper lip, Cleft palate, Small nail OMIM:100300
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Seizures, Cortical Blindness, And Microcephaly Syndrome
Growth delay, Short stature, Bronchiectasis OMIM:616632
Moyamoya Disease
ORPHA:2573

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 Diaph1

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 Diaph1.

No publications found that use IMPC mice or data for Diaph1.

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
Diaph1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Diaph1em1(IMPC)Rbrc Exon Deletion Mice
Diaph1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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