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Gene: Son MGI:98353

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Gene Summary

Name:
Son DNA binding protein
Synonyms:
2900011L12Rik

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 mean corpuscular hemoglobin Sonem1(IMPC)Wtsi HOM Early adult 4.03×10-06

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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 Son 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 Son by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Zttk Syndrome
Small hand, Absent gallbladder, Hypoplasia of the corpus callosum, Short foot, Cerebellar hypopla... OMIM:617140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Hypoplasia of the corpus callosum, Arachnodactyly, Cerebellar hemisphere hypo... ORPHA:500150

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt... ORPHA:859
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Pos... OMIM:620210
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Hypoplasia of the brainstem, ... ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Growth delay, Failure to thrive, Secondary microcephaly, Kyphoscoliosis, Di... OMIM:614727
Immunodeficiency 32B
Failure to thrive, Cerebral calcification, Impaired oxidative burst, Abnormal circulating IgG lev... OMIM:226990
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia, Recurrent urinary tract infections OMIM:300988
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin... OMIM:607271
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L... OMIM:619281
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, ... ORPHA:98813
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Reduced natural killer cell activity, Decreas... OMIM:300400
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Neutropenia, Chronic Familial
Increased circulating antibody level, Clubbing, Neutropenia, Clubbing of fingers OMIM:162700
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating IgG level, Abnormal epiphysis morphology, Intrauterin... ORPHA:2643
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Trimethylaminuria
Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microcephaly, Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth ... OMIM:614082
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Decreased body weight, Microcephaly, Thrombocytopenia, Short stature, Osteopo... OMIM:613606
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m... OMIM:613501
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay OMIM:612563
Immunodeficiency 96
Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt... OMIM:619774
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder, Complete or near-complete absence of speci... OMIM:615401
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Microcephaly, Thrombocytopenia, B lymphocytope... ORPHA:169079
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Folate Malabsorption, Hereditary
Failure to thrive, Basal ganglia calcification, Leukopenia, Folate-responsive megaloblastic anemi... OMIM:229050
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Short stature, Failure to thrive, Neutropenia OMIM:616022
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Hypoplasia of the corpus callosum, Kyphoscoliosis, 2-3 toe syndactyly, Microcephaly,... ORPHA:391307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Short thumb, Growth delay, Horseshoe kidney, Intra... OMIM:612562
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Gene... OMIM:215250
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Thrombocytopenia... OMIM:619302
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Abnormal cortical gyration, Proximal tubulopathy, Decreased specific a... OMIM:614576
Immunodeficiency 53
Recurrent urinary tract infections, Impaired lymphocyte transformation with phytohemagglutinin, F... OMIM:617585
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscu... OMIM:617052
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Disproport... OMIM:242900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... ORPHA:508533
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Sple... OMIM:616005
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... OMIM:308240
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Neutropenia ORPHA:90023
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Cerebral atrophy, Secondary microcephaly, Pancytopenia, Cerebe... OMIM:613839
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... OMIM:603909
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ... OMIM:618394
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb... OMIM:616740
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Abnormal pelvic girdle bone morphology, Growth arrest lines, Failure to thrive, In... OMIM:102700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig... ORPHA:221139
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Diamond-Blackfan Anemia 11
Finger aplasia, Unilateral renal agenesis, Bone marrow hypocellularity, Absent thumb, Unilateral ... OMIM:614900
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar... OMIM:614699
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Immunodeficiency 10
Decreased circulating IgG level, Recurrent urinary tract infections, Decreased circulating IgA le... OMIM:612783
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... OMIM:619301
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod... ORPHA:71289
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni... ORPHA:811
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Thoracolumbar kyphosis, Epiphyseal dysplasia, Disproportionate short stature, Hypo... OMIM:617425
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Decreas... OMIM:275350
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level... OMIM:614700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Renal insufficiency, Attention deficit hyperactivity d... ORPHA:281090
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp... ORPHA:2134
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Postnatal growth retardation, Talipes equ... OMIM:611209
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Oslam Syndrome
Increased mean corpuscular volume, Radioulnar synostosis, Short stature, Clinodactyly of the 5th ... ORPHA:2760
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Renal hypoplasia, Optic nerve hypoplasia, Absent thumb, Short 1st me... OMIM:609053
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Ischemic stroke, Mental deterioration OMIM:182410
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Leukopenia, Microcephaly, Thrombocytopenia, Anemia, Decr... OMIM:618116
Aicardi-Goutieres Syndrome 6
Cerebral calcification, Intrauterine growth retardation, Splenomegaly, Irritability, Microcephaly... OMIM:615010
Pelger-Huet Anomaly
Giant platelets, Short 3rd metacarpal, Failure to thrive, Upper limb undergrowth, Macrocephaly, S... OMIM:169400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ... OMIM:611590
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Disproportionate short-limb short stature, Clinodact... OMIM:616541
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ... ORPHA:1830
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Macrocephaly, Splenomegaly, Kyphoscoliosis, Thin bo... OMIM:176920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Anisocytosis, Dy... OMIM:604273
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Failure t... OMIM:603467
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Small hand, Decre... OMIM:620005
Specific Granule Deficiency 2
Osteopenia, Sandal gap, Failure to thrive, Absent neutrophil specific granules, Brachydactyly, Th... OMIM:617475
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Microcephaly, Attention d... OMIM:619151
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal cerebral white matter morphology, Thrombocy... OMIM:159550
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Short thumb, Failure to thrive, Persistence of hemoglobin F, M... OMIM:612561
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Rhizomelia, Reduced cerebral white matter volume, Hemimegalenceph... OMIM:616638
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Short neck, Acute myeloid leuke... ORPHA:124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Intrauterine growth retardation, Decreased circulating antibody level... OMIM:616910
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Abnormality of the liver, Intrauterine growth retardation, Microcephaly, ... ORPHA:1980
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... ORPHA:169154
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Po... OMIM:618728
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus OMIM:200900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Anorexia, Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Throm... ORPHA:79312
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d... OMIM:613496
Cach Syndrome
Renal hypoplasia, Cerebral atrophy, Hepatosplenomegaly, Intrauterine growth retardation, Dysgyria... ORPHA:135
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat... OMIM:616100
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D... ORPHA:90362
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Short neck, Neutropenia, Hypoplastic ilia, Hypoplastic coccygeal ver... OMIM:105650
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... OMIM:127550
Preeclampsia/Eclampsia 1
Proteinuria, Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Aggressive Systemic Mastocytosis
Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of ... ORPHA:98850
Babesiosis
Depression, Confusion, Leukopenia, Renal insufficiency, Splenomegaly, Clinodactyly of the 5th toe... ORPHA:108
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye... OMIM:260400
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:436159
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos... ORPHA:158057
Niemann-Pick Disease, Type B
Mental deterioration, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemi... OMIM:607616
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Growth delay, Vesicoureteral reflux, Abnormal cortical bone morphology... ORPHA:2512
Immunodeficiency 22
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr... OMIM:615758
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Microcephaly, Mild intrauterine growth retardation, Increased HbA2 hemo... OMIM:616943
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neu... ORPHA:289916
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Clinodactyly, Slender long bone, Hepatitis, Relative macrocephaly, Failure to thrive in infancy, ... OMIM:613385
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Celiac Disease, Susceptibility To, 1
Depression, Rickets, Failure to thrive, Postnatal growth retardation, Cerebral calcification, Dec... OMIM:212750
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla... OMIM:611555
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Microc... ORPHA:2585
Roifman Syndrome
Epiphyseal dysplasia, Biconvex vertebral bodies, Short toe, Hippocampal atrophy, Postnatal growth... ORPHA:353298
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Renal hypoplasia, Clinodactyly, Failure to thrive, Lymphopenia, Int... OMIM:618460
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Slender finger, Methylmalonic aciduria, Cerebral atrophy, Failure to thrive, Micr... OMIM:250940
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Intrauterine growth reta... OMIM:617056
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Cerebral atrophy, Increased circulating IgE level, Lymphopenia, ... OMIM:620603
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ... OMIM:615767
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Malaria
Anemia, Acute kidney injury, Cognitive impairment, Thrombocytopenia ORPHA:673
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Vesicourete... OMIM:619951
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Leukopenia, Microcephaly, Thrombocytopenia, Anemia OMIM:615715
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Proximal placement of thumb, Hypoplasia of the corpus callosum... ORPHA:261250
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Depression, Dementia... ORPHA:101096
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Postnatal growth retardation, Splen... OMIM:620632
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Cerebellar vermis hypoplasia, Unilateral renal agenesis, Renal hypoplasia, Secondary microcephaly... OMIM:620654
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Mevalonic Aciduria
Fluctuating splenomegaly, Cerebral atrophy, Failure to thrive, Failure to thrive in infancy, Hepa... OMIM:610377
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Mucopolysaccharidosis-Plus Syndrome
Cerebral calcification, Short neck, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular... OMIM:617303
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, Abnormal circulating IgM... OMIM:618048
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... OMIM:613330
Immunodeficiency 27A
Increased circulating IgG level, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypopl... OMIM:209950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, Short stat... OMIM:242860
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Growth delay, Pancytopenia, Leukopenia,... OMIM:613990
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Preaxial hand polydactyly, Urinary bladder wall hypertrop... OMIM:601389
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Cerebral atrophy, Failure to thrive, ... OMIM:606054
Cohen Syndrome
Small for gestational age, Lumbar hyperlordosis, Leukopenia, Genu valgum, Thoracic scoliosis, Cer... OMIM:216550
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t... OMIM:615617
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Cerebral calcification, Hypoplasia of the corpus callosum, Progressive microc... OMIM:610329
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Metaphyseal irregularity, Short iliac bones, Lymphopenia, Lumbar hyperlordosis, Ce... OMIM:607944
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Absent thumb, Short thumb, Horseshoe kidney, Postnata... OMIM:610832
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Postnatal growth retardation, Microcephaly, Attention deficit hyperact... OMIM:619504
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... OMIM:271510
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell ... OMIM:304790
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Clinodactyly, Decreased platelet glycoprotein Ib, Proteinuria, Microcephaly, Throm... OMIM:603585
Ck Syndrome
Abnormal cerebral cortex morphology, Polymicrogyria, Slender build, Lumbar hyperlordosis, Kyphosc... ORPHA:251383
Stuve-Wiedemann Syndrome 2
Stillbirth, Intrauterine growth retardation, Neonatal death, Bowing of the long bones, Dysphagia,... OMIM:619751
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Hepatomegaly, ... OMIM:610539
Mitochondrial Complex I Deficiency, Nuclear Type 33
Reduced cerebral white matter volume, Intrauterine growth retardation, Irritability, Cerebellar h... OMIM:618253
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Pancytopenia, ... OMIM:613989
12Q14 Microdeletion Syndrome
Renal hypoplasia, Failure to thrive, Horseshoe kidney, Abnormality of the spleen, Intrauterine gr... ORPHA:94063
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Congenital thrombocytopenia, Neut... OMIM:616738
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Failure to thrive, Intrauterine growth retardation, Decreased ci... OMIM:620040
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Failure to thrive, Intrauterine growth retarda... ORPHA:79284
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cirrhosis, Neutropenia OMIM:604250
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... OMIM:250250
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Takenouchi-Kosaki Syndrome
Cerebral cortical atrophy, Hypospadias, Unilateral renal agenesis, Clinodactyly, Proximal placeme... OMIM:616737
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level, Gl... OMIM:247800
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating IgE, Recurrent urinary tract infections, D... OMIM:300755
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Bone marrow hypocellularity, Absent thumb, Renal agenesis, Short th... OMIM:227645
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Adducted thumb, Primary microcephaly, Thrombocytopenia, Growth delay, Cereb... OMIM:601815
Foxg1 Syndrome
Abnormal corpus callosum morphology, Bruxism, Hypoplasia of the corpus callosum, Agenesis of corp... ORPHA:561854
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality... ORPHA:33355
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neu... OMIM:301110
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ... OMIM:617006
Congenital Toxoplasmosis
Failure to thrive in infancy, Cerebral calcification, Intrauterine growth retardation, Microcepha... ORPHA:858
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Absent... OMIM:600901
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Absent... OMIM:227650
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproportionate sh... OMIM:222600
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Xq28 (MECP2) duplication
Depression, Functional abnormality of the bladder, Failure to thrive, Decreased circulating IgA l... DECIPHER:45
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Polymicrogyria, Large f... OMIM:614520
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Lumbar kyphosis, Attentio... OMIM:620184
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Felty Syndrome
Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ... ORPHA:47612
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Absent thumb, Polysplenia, Intrauterine growth retardation, Abnormal periventri... OMIM:617784
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Neutropenia, Absent... OMIM:227646
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... OMIM:208900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Osteopenia, Proximal tubulopathy, Kyphosis, Hepatic fibrosis, Failu... OMIM:212065
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Cognitive impairment, Neutropenia, Diaphyseal u... ORPHA:175
Majeed Syndrome
Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq... OMIM:609628
X-Linked Agammaglobulinemia
Hepatitis, Failure to thrive, Abnormality of the lymphatic system, Agammaglobulinemia, Weight los... ORPHA:47
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Intrauterine growth retardation, Macroc... OMIM:620501
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent thumb, Hypoplast... OMIM:614083
Maternal Uniparental Disomy Of Chromosome 1
Growth delay, Failure to thrive, Panhypogammaglobulinemia, Progressive psychomotor deterioration,... ORPHA:251009
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased bone mineral density... ORPHA:37748
Acute Promyelocytic Leukemia
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Addictive alcohol use, Weight loss, ... ORPHA:520
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4... ORPHA:443811
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Decreased circulating complement C3 concentration, Decreased circulating... OMIM:301080
Rasmussen Subacute Encephalitis
Global brain atrophy, Focal cortical dysplasia, Memory impairment, Abnormal basal ganglia morphol... ORPHA:1929
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Microcephaly, Thrombocytopenia, Neutropenia, Anemia, Short stature OMIM:617243
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Kyphoscoliosis,... OMIM:618005
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp... OMIM:613101
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Cerebral calcification, Re... OMIM:619644
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Osteolysis, Lymphadenopathy ORPHA:158014
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,... ORPHA:77259
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia OMIM:616871
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Microcephaly, Aplas... OMIM:600384
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Cerebral hypoplasia, Rhizomelic arm shortening, Lymphopenia, Leukope... ORPHA:508542
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, 2-3 toe syndactyly, Microcephaly, Talipes equinovarus, Motor stereotyp... ORPHA:3306
Developmental And Epileptic Encephalopathy 66
Cerebellar vermis hypoplasia, Neutropenia, Anemia, Clinodactyly of the 5th finger, Motor stereotypy OMIM:618067
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Cerebral atrophy, Failure to thrive, Thrombocytopenia, Ne... OMIM:614857
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, I... ORPHA:540
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... ORPHA:97362
Aicardi-Goutieres Syndrome 5
Leukoencephalopathy, Increased circulating interferon-gamma concentration, Intracerebral perivent... OMIM:612952
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Clinodact... ORPHA:229717
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Splenomegaly, Mic... ORPHA:397596
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Cerebral cortical atrophy, Homocystinuria, Increased mean corpuscular volume, Methylmalonic acidu... OMIM:277410
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... ORPHA:486
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Clinodactyly, Postnatal growth retardation, Talipes equinovarus, Hypospadias, Motor stereotypy, H... OMIM:301040
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Reduced cerebral white matter volume, Parietal cortical atrophy, Kyphosc... OMIM:620075
Immunodeficiency 23
Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropen... OMIM:615816
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Pancytopenia, Renal insufficiency, Microcephaly, Short stature, Hypoplasia of p... ORPHA:85321
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Cerebral cortical atrophy, Microcephaly, Brachydactyly, Neutrop... OMIM:266265
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Depression, Dementia, Pancytopenia, Splenomegaly, Decreased... OMIM:231000
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Failure to thrive, Reduced natural killer cell activity, Pancy... OMIM:616050
Beta-Thalassemia Intermedia
Osteopenia, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of he... ORPHA:231222
Immunodeficiency 61
Obesity, Decreased circulating IgG2 level, Attention deficit hyperactivity disorder, Decreased ci... OMIM:300310
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Obesity, ... ORPHA:65759
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Reduced cerebral white matter volume, Hippocampal atrophy, Kyphoscoliosis, Aggressiv... OMIM:301107
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c... ORPHA:231226
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Cerebral calcificatio... OMIM:617241
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Macrocephaly, Anemia OMIM:615085
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Diamond-Blackfan Anemia 4
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay OMIM:612527
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Abnormal vertebral morphology, Renal hypoplasia, Hypoplasia of the brainstem, Intrauterine growth... OMIM:616817
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... ORPHA:86839
Amegakaryocytic Thrombocytopenia, Congenital, 1
Cerebellar vermis hypoplasia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig... OMIM:243700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
Wolcott-Rallison Syndrome
Chronic kidney disease, Growth delay, Exocrine pancreatic insufficiency, Abnormality of the liver... ORPHA:1667
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... OMIM:618142
Coach Syndrome 1
Cerebellar vermis hypoplasia, Unilateral renal agenesis, Nephronophthisis, Hepatic fibrosis, Grow... OMIM:216360
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Vertebral segmen... OMIM:617661
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Mental deterioration, Pseudobulbar paralysis, Localized osteoporosis, Emotional lability, Kyphosc... ORPHA:199354
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Postnatal growth retardation, Intrauterine grow... OMIM:223370
Fetal Parvovirus Syndrome
Anemia, Intrauterine growth retardation, Thrombocytopenia ORPHA:295
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Erythroid ... OMIM:612541
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Short stature, Neutropenia OMIM:618752
Spinocerebellar Ataxia, Autosomal Recessive 20
Cerebral cortical atrophy, Oligosacchariduria, Clinodactyly, Splenomegaly, Kyphoscoliosis, Cerebe... OMIM:616354
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Failure to thrive, Cerebral atrophy, Overlapping toe, Hypoplasia of... OMIM:600118
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myelo... OMIM:616435
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Spinocerebellar Ataxia, Autosomal Recessive 23
Microcephaly, Neutropenia OMIM:616949
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal hypoplasia, Toe syndactyly, Renal agenesis, Cerebral atrophy, Obesity, Abnormal septum pell... ORPHA:171839
Bloom Syndrome
Decreased circulating IgG level, Postnatal growth retardation, Intrauterine growth retardation, C... OMIM:210900
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Alg12-Cdg
Overlapping fingers, Abnormal circulating IgG level, Hypoplasia of the corpus callosum, Talipes e... ORPHA:79324
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o... ORPHA:277
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Unilateral renal agenesis, Failure to thrive, Hypoplasia of the cor... OMIM:609757
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Obesity, Overfriendliness, Microcephaly, Short neck, Polyphagia, Attention defi... OMIM:620439
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Small for gestational age, Growth delay, Renal agenesis, Cere... OMIM:615583
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Confusion, Renal insufficiency, Reticuloc... ORPHA:54057
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Splenomegaly, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, ... OMIM:252930
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Recurrent urinary tract infections, Intra... ORPHA:125
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,... OMIM:601457
Aicardi-Goutieres Syndrome 4
Cerebral atrophy, Cerebral calcification, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Intraut... OMIM:610333
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
3-Methylglutaconic Aciduria Type 4
Microcephaly, 3-Methylglutaconic aciduria, Failure to thrive, Thrombocytopenia ORPHA:67048
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Mogs-Cdg
Decreased circulating IgG level, Overlapping fingers, Hepatosplenomegaly, Decreased circulating I... ORPHA:79330
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Rhabdoid Tumor
Renal neoplasm, Irritability, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thr... ORPHA:69077
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Hypoplasia of the corpus callosum, Agenesis of c... OMIM:301056
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Intrauterine growth retardation, Increased circulating IgA level,... OMIM:616395
Noonan Syndrome 12
Lymphopenia, Spinal canal stenosis, Thrombocytopenia, Proximal placement of thumb OMIM:618624
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Confusion, Abnormal nasopharyngeal ad... ORPHA:3392
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pa... OMIM:618494
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... OMIM:615387
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
3-Methylglutaconic Aciduria, Type Viia
Secondary microcephaly, Abnormal periventricular white matter morphology, 3-Methylglutaconic acid... OMIM:619835
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentation defect, Ureteral atre... OMIM:618845
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Clinodactyly, Proximal placement of thumb, Postnatal grow... ORPHA:487796
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Cerebral atrophy... ORPHA:445038
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Recurrent urinary... ORPHA:331235
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Neonatal Lupus Erythematosus
Aplastic anemia, Basal ganglia calcification, Pancytopenia, Macrocephaly, Abnormality of the live... ORPHA:398124
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Leukopenia, Stage 5 chronic kidney disease, Hepatomega... OMIM:251000
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Urinary r... ORPHA:79124
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Leukoencephalopathy, Failure to thrive, Intrauterine growth retardation, Decreased circulating Ig... OMIM:617744
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Weismann-Netter Syndrome
Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab... ORPHA:3344
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Microcephaly, Aggressive behavior, Hallux valgus, Hyperactivity, Short stature, M... OMIM:615541
Castleman Disease
Increased circulating interleukin 6 concentration, Ureteral obstruction, Renal insufficiency, Fol... ORPHA:160
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Increased circulating interleukin 6 concentration, Failure to thrive, Cholestas... OMIM:620376
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Delayed puberty, Cognitive impa... ORPHA:100
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Neutropenia, Short foot,... ORPHA:93357
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:300861
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thromb... OMIM:611490
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay OMIM:619164
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Failure to thrive, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, ... OMIM:613327
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Bardet-Biedl Syndrome 19
Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Obesity, Renal insuffic... OMIM:615996
Sengers Syndrome
Osteopenia, Mental deterioration, 3-Methylglutaconic aciduria, Thrombocytopenia, Growth delay OMIM:212350
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Cerebral cortical atrophy, Rhizomelia, Flared metaphysis, Epiphyseal stippl... OMIM:215100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, He... ORPHA:848
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome... OMIM:301045
Hereditary Folate Malabsorption
Failure to thrive, Recurrent urinary tract infections, Pancytopenia, Cerebral calcification, Eosi... ORPHA:90045
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th... OMIM:231095
Even-Plus Syndrome
Epiphyseal dysplasia, Severe short stature, Renal hypoplasia, Recurrent urinary tract infections,... OMIM:616854
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad thumb, Broad hallux, Kyphoscoliosis, Microcephaly, Atlantoaxial abnormality, Short stature ORPHA:3433
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Nephropathy, Decreased specific anti-polysaccharide antibody leve... OMIM:301000
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Disproportionate short stature, Short femoral neck, Small epiphyses, Genu valgum, Obesity, Hip co... OMIM:618363
Fliedner-Zweier Syndrome
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hypopl... OMIM:620511
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Congenital Enterovirus Infection
Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Irritability, N... ORPHA:292
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Cerebral cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disinteg... OMIM:174000
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypospadias, Growth delay, Failure to thrive, Cerebral atrophy, Renal tubular acidosis, Hypoplasi... OMIM:615471
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Poland Syndrome
Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Renal hypoplasia/aplasia, Aplasia/Hyp... ORPHA:2911
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Growth delay, Failure to... ORPHA:96170
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... OMIM:300635
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Internal tibial torsion, Kyphoscoliosis, Beak... OMIM:616583
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Decrease... OMIM:607143
Syndromic Diarrhea
Hepatic fibrosis, Renal hypoplasia, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liv... ORPHA:84064
Aspergillosis
Abnormality of the vertebral column, Hepatitis, Increased circulating IgE level, Abnormal long bo... ORPHA:1163
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Postnatal gro... ORPHA:83617
Emanuel Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Failure to thrive, Cereb... OMIM:609029
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly, Thrombocytopenia, Short statu... OMIM:616577
Mirage Syndrome
Hypospadias, Microphallus, Recurrent urinary tract infections, Radial club hand, Lymphopenia, Leu... OMIM:617053
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Failure to thrive, Pancytopenia, Talipe... OMIM:277380
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Hand clenching, Growth delay, Medullary nephrocalcinosis, Intrauterine growth ... OMIM:618947
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Foot oligodactyly, Portal hypertension, Splenomegaly, Brachyd... OMIM:616589
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:619381
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Hypoplasia of the corpus ca... OMIM:616362
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Vici Syndrome
Cerebellar vermis hypoplasia, Cutaneous anergy, Decreased circulating IgG level, Failure to thriv... OMIM:242840
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Cerebral atrophy, I... OMIM:259720
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th... OMIM:617926
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Aplastic anemia, Grow... ORPHA:221008
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Cerebral atrophy, Leukopenia, Intrauterine growth retardation, Hepatic steatosis, 3-M... OMIM:616271
Flynn-Aird Syndrome
Increased bone density with cystic changes, Kyphoscoliosis, Dementia, Osteoporosis, Increased bon... OMIM:136300
Congenital Rubella Syndrome
Intrauterine growth retardation, Splenomegaly, Microcephaly, Hepatomegaly, Short stature, Thrombo... ORPHA:290
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ... OMIM:618278
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia ORPHA:2123
Cog4-Cdg
Frontotemporal cerebral atrophy, Failure to thrive in infancy, Hepatosplenomegaly, Hypoplasia of ... ORPHA:263501
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Sandwich appearance of vertebral bodies, Flared metaphysis, Pancytopenia, Sple... OMIM:259700
Mhc Class Ii Deficiency 1
Cutaneous anergy, Failure to thrive, Recurrent urinary tract infections, Panhypogammaglobulinemia... OMIM:209920
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Fractured rib, Osteopenia, Metaphyseal spurs, Femoral bowing, Splenic ... OMIM:618188
Cornelia De Lange Syndrome 1
Short neck, Dislocated radial head, Ectopic kidney, Hypospadias, Self-injurious behavior, Reduced... OMIM:122470
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Bresek Syndrome
Renal hypoplasia, Hypoplasia of the bladder, Growth delay, Intrauterine growth retardation, Vesic... ORPHA:85284
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia, Inc... ORPHA:83313
Shwachman-Diamond Syndrome 2
Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,... OMIM:617941
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Increased circulating IgE level, Intr... OMIM:620565
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia,... ORPHA:27
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Short stature, Relative macrocephaly, Metaphyseal striations, Decreased circulating total IgM OMIM:615139
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Shashi-Pena Syndrome
Unilateral renal agenesis, Reduced cerebral white matter volume, Intrauterine growth retardation,... OMIM:617190
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Hepatic steatosis, Hypoplasia of the corpus callosum... OMIM:270400
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ... OMIM:101800
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Stillbirth, Intestinal lymphangiectasia OMIM:152800
Marden-Walker Syndrome
Hypospadias, Inferior cerebellar vermis hypoplasia, Renal hypoplasia, Hypoplasia of the brainstem... OMIM:248700
Wilson Disease
Depression, Hepatitis, Failure to thrive, Acute hepatitis, Splenomegaly, Hepatic steatosis, Incre... ORPHA:905
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Autosomal Agammaglobulinemia
Agammaglobulinemia, Failure to thrive, Hepatitis, Neutropenia ORPHA:33110
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
19P13.3 Microduplication Syndrome
Self-injurious behavior, Clinodactyly, Cerebral atrophy, Intrauterine growth retardation, Kyphosc... ORPHA:447980
Hadziselimovic Syndrome
Renal hypoplasia, Failure to thrive, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Mi... OMIM:612946
Meier-Gorlin Syndrome 8
Intrauterine growth retardation, Unilateral renal hypoplasia, Nephroptosis, Decreased body weight OMIM:617564
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... OMIM:615190
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Short toe, Obesity, Kyphoscoliosis, Proportionate short stature, Aggressive b... ORPHA:404443
Braddock Syndrome
Unilateral renal agenesis, Failure to thrive, Preaxial hand polydactyly, Intrauterine growth reta... ORPHA:52047
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ... OMIM:608233
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Clinodactyly of the 5th finger, Decreased circulating antibody level ORPHA:1116
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Intrauterine growth retardation, Microcephaly, Thrombocytopenia, Micropenis OMIM:615597
Stt3B-Cdg
Failure to thrive, Intrauterine growth retardation, Microcephaly, Thrombocytopenia, Micropenis ORPHA:370924
Barth Syndrome
Failure to thrive, Cyclic neutropenia, 3-Methylglutaconic aciduria, Talipes equinovarus, Hypochro... OMIM:302060
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cerebral atrophy, Sideroblastic anemia, Splenomegaly, B lymphocy... OMIM:616084
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Patellar hypoplasia, Obesity, Vesicoureteral reflux, Hypoplasia of the corpus c... ORPHA:464288
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Hypoch... ORPHA:289157
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:49827
21Q22.11Q22.12 Microdeletion Syndrome
Acromesomelia, Self-injurious behavior, Clinodactyly, Failure to thrive in infancy, Postnatal gro... ORPHA:261323
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Decreased lymphocyte proliferation in response to mitogen, Failure to th... OMIM:613179
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Cerebral cortical atrophy, Homocystinuria, Acute kidney injury, Methylmalonic acidur... OMIM:277400
Cerebrooculofacioskeletal Syndrome 1
Progressive neurologic deterioration, Failure to thrive, Basal ganglia calcification, Agenesis of... OMIM:214150
Letterer-Siwe Disease
Hepatosplenomegaly, Irritability, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Intrauterine growth retardation, Splenomegaly, Emotional lability,... ORPHA:525731
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short stature, Abnormal metaphysis mor... ORPHA:93304
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Hypoplasia of the corpus callosum, Carpal bone hypoplasia, Short ne... ORPHA:457395
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Small hand, Clinodactyly, Agenesis of corpus callosum, Microcephaly... OMIM:619980
Macrocephaly/Autism Syndrome
Postnatal macrocephaly, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Spleno... OMIM:605309
Immunodeficiency 110 With Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia OMIM:614868
Hoyeraal-Hreidarsson Syndrome
Cerebral cortical atrophy, Bone marrow hypocellularity, Failure to thrive, Cerebral calcification... ORPHA:3322
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Short neck, Lymphadenopathy, Macrocephaly, Short stature, ... OMIM:619750
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Dysplasia of the femora... ORPHA:93284
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Renal hypoplasia, Hypoplasia of the brainstem, Ureteral agenesis, Neonatal death... OMIM:236500
Isovaleric Acidemia
Hyperglycinuria, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elevate... OMIM:243500
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, ... OMIM:601495
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Abnormal ulnar metaphysis morphology, Cerebral calcification, Genu ... ORPHA:85198
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hand polydactyly OMIM:236110
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Severe fa... ORPHA:468631
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Hypoplasia of the corpus callosum, Kyphoscoliosis, Microcephaly, Growth delay OMIM:618006
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Proteinuria, Weight loss, Decreased circulating complement C4 concentrat... ORPHA:90060
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegal... OMIM:619488
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Renal hypoplasia, Optic nerve hypoplasia, Bilateral renal agenesis, Hypere... OMIM:617914
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Microcephaly, Abnormality of the liver, Absence of lymph node ge... OMIM:235550
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis, Osteopenia, Os odontoideum, Postnatal growth retardation, Intrauterine... OMIM:616603
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Periventricula... ORPHA:158048
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Bowing of the long bones, Talipes equinovarus, Short neck, Abnormal femoral epip... OMIM:255800
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Abnormal metaphysis morphology, Agammaglobulinemia, Biparietal narrowing, Long fibul... ORPHA:935
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar... OMIM:617827
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Wolfram Syndrome 1
Hydroureter, Limited mobility of proximal interphalangeal joint, Cerebral atrophy, Sideroblastic ... OMIM:222300
Icf Syndrome
Lymphopenia, Macrocephaly, Anemia, Abnormality of neutrophils, Decreased circulating antibody lev... ORPHA:2268
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA lev... OMIM:615934
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Abnormal thoracic spine morphology, Abnormal spleen morphology, Abnormal pelv... ORPHA:464329
Cohen Syndrome
Finger syndactyly, Sandal gap, Failure to thrive in infancy, Abnormal hip bone morphology, Genu v... ORPHA:193
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Epiphyseal dysplasia, Inferior cerebellar vermis hypoplasia, Renal hypoplasia, Nep... OMIM:617913
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Sepsis In Premature Infants
Oliguria, Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Reversib... ORPHA:90051
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Leukopenia, Leukocytosis, Hematuria, Thro... ORPHA:91547
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Irritability, Kyphoscoliosis, Aggressive behavior, Hyper... ORPHA:3077
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Osteopenia, Broad femoral neck, Flared metaphysis, Camptodactyly of finger, Modera... OMIM:612350
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Elevated urine 2-methylcitric... OMIM:251100
Lessel-Kubisch Syndrome
Short stature, Renal hypoplasia, Renal insufficiency OMIM:618681
Hyperlysinemia, Type I
Hyperlysinuria, Short attention span, Cystinuria, Hyperactivity, Cognitive impairment, Anemia, Or... OMIM:238700
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Hypoplasia of the brainstem, Intrauterine growth retardation, Hypop... ORPHA:391408
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Thrombocytopenia ORPHA:3327
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Failure to thrive, Intrauterine growth retardation, Kyphoscoliosis... ORPHA:96183
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
Joubert Syndrome 22
Renal hypoplasia, Temporal cortical atrophy, Postaxial foot polydactyly, Intrauterine growth reta... OMIM:615665
Dk Phocomelia Syndrome
Phocomelia, Thrombocytopenia OMIM:223340
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Transaldolase Deficiency
Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Abnormality of the kidney, Anemia ORPHA:101028
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Genu valgum... OMIM:259710
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lumbar scoliosis, Cerebral white matter atrophy, Short neck, Abnormal bone ossification, Metaphys... ORPHA:99646
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Prot... OMIM:613845
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Cerebellar vermis hypoplasia, Abnormal natural killer cell morphology, Overlapping fingers, Intra... OMIM:615966
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction, Genu valgum, Kyphoscoliosis, Talipes equinovarus, Scoliosis ORPHA:3115
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopeni... OMIM:251110
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Hypoplasia of the pons, Cerebral atrophy, Polymicrogyria, Hypopl... OMIM:618973
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Hemolytic anemia OMIM:152700
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Confusion, Leukocytosis, Abnormal cerebral white matter morphology, Thrombocytopenia ORPHA:83601
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... ORPHA:3226
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Horseshoe kidney, Absent radius, Fibular aplasia,... ORPHA:3320
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Hypoplasia of the corpus callosum, Arachnodactyly, Hypospadias, Motor stereotypy,... ORPHA:464306
Joubert Syndrome 18
Horseshoe kidney, Intrauterine growth retardation, Trident pelvis, Agenesis of corpus callosum, K... OMIM:614815
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lymphopenia, Leu... ORPHA:93552
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac... OMIM:612847
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Short toe, Patellar hypoplasia, Hyperextensibility of the finger joints, Lumbar hyperlordosis, Se... ORPHA:3041
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Complete or near-complete absence of ... OMIM:615468
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Cerebral hypoplasia, Reduced cerebral white matter volume, Hypoplasia of the corpus callosum, Kyp... OMIM:617977
Cockayne Syndrome Type 3
Progressive neurologic deterioration, Unilateral renal agenesis, Renal hypoplasia, Hydroureter, U... ORPHA:90324
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Microcephaly, Pancytopenia, Intrauterine growth retardation, Postnatal growth retardation OMIM:600546
Leigh Syndrome
Neuronal loss in basal ganglia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, 3... ORPHA:506
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Postnatal growth retardation, Overlapping toe, Hypoplasia of the corpus callosum, Talipes equinov... OMIM:213980
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypoplasia of the corpus callosum, Flexion contracture of finger, Short foot, Hypospadias, Motor ... ORPHA:464311
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Roifman Syndrome
Biconvex vertebral bodies, Short toe, Postnatal growth retardation, Irregular femoral epiphysis, ... OMIM:616651
Bone Marrow Failure Syndrome 5
Growth delay, Erythroid hypoplasia, Microcephaly, Anemia, Pure red cell aplasia, Decreased circul... OMIM:618165
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Chromosome Xq13 Duplication Syndrome
Intrauterine growth retardation, Clinodactyly of the 5th finger, Emotional lability, Hyperintensi... OMIM:301069
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Mental deterioration, Memory impairment, Ketonuria, Methylmalonic aciduria, ... ORPHA:79282
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia, ... OMIM:249270
Tafro Syndrome
Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly... ORPHA:457077
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Bifid distal phalanx of toe, Cutaneous finger syndac... OMIM:618419
Burn-Mckeown Syndrome
2-3 toe syndactyly, Unilateral renal agenesis, Renal hypoplasia, Short stature OMIM:608572
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Genu valgum, Abnormal metatarsal morpholog... ORPHA:93360
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Cerebral calcification, Leukocytosis, Cerebellar hypoplasia, ... OMIM:618886
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Macrocephaly, Micropenis, Mo... OMIM:618504
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Aplasia/Hypoplasia of the corpus callosum, Postnatal gro... ORPHA:235
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic an... OMIM:557000
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Small hand, Type II lissencephaly, Postnatal growth retardation, Abnormal basal ganglia morpholog... ORPHA:300570
Cerebrooculofacioskeletal Syndrome 4
Flexion contracture of toe, Abnormality of the vertebral column, Slender long bone, Polymicrogyri... OMIM:610758
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Small for gestational age, Kyphoscoliosis OMIM:300844
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Aplastic anemia, Grow... ORPHA:221016
Chromosome 2P16.1-P15 Deletion Syndrome
Hypoplasia of the pons, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retar... OMIM:612513
Revesz Syndrome
Bone marrow hypocellularity, Aplastic anemia, Cerebral calcification, Intrauterine growth retarda... OMIM:268130
Spastic Paraplegia 20, Autosomal Recessive
Clinodactyly, Emotional lability, Kyphoscoliosis, Brachydactyly, Ulnar deviation of the hand, Dys... OMIM:275900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukoencephalopathy, Osteopenia, Bone marrow hypocellularity, Mental deterioration, Short femoral... OMIM:612199
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto... OMIM:615952
Coffin-Siris Syndrome 6
Clinodactyly, Periventricular leukomalacia, Kyphoscoliosis, Attention deficit hyperactivity disor... OMIM:617808
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Impaired T cell function, Obesity, Renal insufficiency... OMIM:188400
Prolidase Deficiency
Failure to thrive, Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundic... OMIM:170100
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Hypoplastic scapulae, Periportal fibrosis, Short toe, Short finger, Intrauterin... OMIM:269860
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Uretero... ORPHA:49041
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron concentrat... ORPHA:300298
Developmental Delay, Hypotonia, And Impaired Language
Microcephaly, Neutropenia, Macrocephaly OMIM:620012
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Abnormal corpus callosum morphology, Polymicrogyria, Large for gestational age, Decreased circula... ORPHA:457485
Nijmegen Breakage Syndrome
Sandal gap, Recurrent urinary tract infections, Intrauterine growth retardation, Autoimmune hemol... OMIM:251260
Rauch-Steindl Syndrome
Failure to thrive, Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancreatic insuff... OMIM:619695
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Decreased circulating antibody level, Splenomegaly,... ORPHA:29073
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Cholestasis, Intrauterine growth retardation, Neonatal death, Talipes equinova... OMIM:608104
Holocarboxylase Synthetase Deficiency
Organic aciduria, Irritability, Weight loss, Thrombocytopenia, Anorexia, Growth delay ORPHA:79242
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Short iliac bones, Acetabular spurs, Stage 5 chronic kidney disease... OMIM:614376
Preeclampsia
Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Intrauterine... ORPHA:275555
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis, Broad hallux, Radioulnar synostosis, Ectopic kidney, Hemiverteb... OMIM:212780
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... OMIM:602450
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Renal hypoplasia, Sandal gap, Cranial hyperostosis, Splenomegaly, Nephroblastoma, S... OMIM:612918
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hype... ORPHA:906
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Trichothiodystrophy
Cerebral cortical atrophy, Osteopenia, Increased mean corpuscular hemoglobin concentration, Incre... ORPHA:33364
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Talipes equinovarus, Dysphagia, Kyphoscoliosis ORPHA:496689
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Failure to thrive, Horseshoe kidney, Intrauterine growth reta... ORPHA:2470
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Kyphoscoliosis ORPHA:300179
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Failure to thrive, Reduced natural killer cell activity, Leukopenia, Hepatosple... OMIM:603553
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Seckel Syndrome 1
Ivory epiphyses, Cerebellar vermis hypoplasia, Hypospadias, Sandal gap, Hypoplasia of proximal ra... OMIM:210600
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Ck Syndrome
Polymicrogyria, Slender build, Abnormal cortical bone morphology, Abnormal digit morphology, Irri... OMIM:300831
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Failure to thrive in infancy, Increased circulating IgE level, Autoimmune hemolytic an... ORPHA:37042
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... OMIM:184252
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Mgat2-Cdg
Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG ... ORPHA:79329
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Cockayne Syndrome
Mental deterioration, Basal ganglia calcification, Cerebral calcification, Postnatal growth retar... ORPHA:191
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Unilateral renal agenesis, Short distal phalanx of finger OMIM:601355
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Renal hypoplasia, Sandal gap, Joint contracture of the 5th finger, Joint... OMIM:618914
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Fa... OMIM:208085
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Scoliosis, Kyphoscoliosis, Spinal rigidity OMIM:620386
22Q11.2 Deletion Syndrome
Arachnodactyly, Talipes equinovarus, Short neck, Foot polydactyly, Hypospadias, Polycystic kidney... ORPHA:567
Hyperekplexia 4
Cerebral atrophy, Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Camptodactyly OMIM:618011
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia OMIM:620365
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Oral aversion, Increased c... ORPHA:470
Brown-Vialetto-Van Laere Syndrome 2
Organic aciduria, Kyphoscoliosis, Aggressive behavior, Split hand, Scoliosis, Dysphagia OMIM:614707
Kinsship Syndrome
Mesomelia, Osteopenia, Renal hypoplasia, Failure to thrive, Horseshoe kidney, Bruxism, Fibular hy... OMIM:619297
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Cerebral cortical atrophy, Cerebral atrophy, Increased hepatic glycogen content, D... OMIM:614946
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody lev... OMIM:617591
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ... OMIM:609981
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis, Cerebral atrophy, Hypoplasia of the corpus callosum, Kyphoscoliosis, Irritabili... OMIM:617105
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Immunodeficiency 40
Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome... OMIM:616433
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Alg8-Cdg
Leukoencephalopathy, Cerebral cortical atrophy, Failure to thrive, Intrauterine growth retardatio... ORPHA:79325
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Butterfly vertebrae, Microcephaly, Attention deficit h... OMIM:619227
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Tubulointerstitial fibrosis, Cognitive impairment, Hepatomegaly, Chronic neutr... ORPHA:79259
Nephronophthisis 9
Nephronophthisis, Polydipsia, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyu... OMIM:613824
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Enuresis nocturna, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symp... OMIM:614856
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Decrea... ORPHA:90363
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormality of the ureter, Abnormal hip bone morphology, Microc... ORPHA:2522
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Myoglobinuria, Neutropenia, Hepatomegaly OMIM:251900
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, 2-5 finger syndactyly, Absent toe, Aplasia/Hypoplasia in... OMIM:308050
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circul... OMIM:617388
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas... OMIM:617099
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Hypoplasia of the pons, Oligosacchariduria, Clinodactyly, Hepatosplenomegaly, Kyphoscoliosis, Tal... ORPHA:397709
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Distal Duplication 6P
Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardation, Hydronephro... ORPHA:1745
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypopla... ORPHA:699
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phala... ORPHA:2256
Bcard Syndrome
Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, H... OMIM:612394
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte... ORPHA:169105
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Dysphagia, Thrombocytopenia OMIM:615750
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column, Short stature, Ec... OMIM:601076
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Bilateral radial aplasia, Aplastic anemia, Renal agenesis, Absent ... OMIM:300514
Zika Virus Disease
Congenital intracerebral calcification, Intrauterine growth retardation, Microcephaly, Thrombocyt... ORPHA:448237
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Functional abnormality of the bladder, Hepatitis, Lymphopenia, Hepatosplenomegaly, Re... ORPHA:391487
Braddock-Carey Syndrome 2
Microcephaly, Clinodactyly, Thrombocytopenia OMIM:619981
Toxic Epidermal Necrolysis
Abnormality of the urethra, Polydipsia, Renal insufficiency, Weight loss, Pancreatitis, Dysphagia... ORPHA:537
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the corpus callosum, Agenesis... OMIM:210710
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Intellectual Developmental Disorder, Autosomal Dominant 54
Urinary retention, Bruxism, Irritability, Microcephaly, Aggressive behavior, Neutropenia, Short s... OMIM:617799
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Dysphagia, Thrombocytop... ORPHA:319218
Whistling Face Syndrome, Recessive Form
Ulnar deviation of finger, Shoulder flexion contracture, Kyphoscoliosis, Talipes equinovarus, Sho... OMIM:277720
Fetal Cytomegalovirus Syndrome
Hepatitis, Cerebral calcification, Intrauterine growth retardation, Splenomegaly, Microcephaly, H... ORPHA:294
7Q11.23 Microduplication Syndrome
Polyphagia, Short neck, Motor stereotypy, Hypospadias, Self-injurious behavior, Obesity, Cerebell... ORPHA:96121
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Monosomy 18Q
Diffuse white matter abnormalities, Growth delay, Failure to thrive, Slender build, Decreased cir... ORPHA:1600
Cerebrofacioarticular Syndrome
Self-injurious behavior, Cerebellar vermis hypoplasia, Renal hypoplasia, Osteopenia, Caudal appen... ORPHA:314679
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Intrauterine growth retardation, Genu valgum, Leukocytosis, Hepatic steatosis, ... OMIM:619321
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... OMIM:617595
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop... OMIM:235400
Lathosterolosis
Intrahepatic cholestasis, Toe syndactyly, Postaxial foot polydactyly, Failure to thrive, Horsesho... ORPHA:46059
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Hepatic fibrosis, Microme... OMIM:614091
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Irritability, Hepatomegaly, Lympha... OMIM:267700
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Small hand, Bruxism, Obesity, Emotional lability, Kyphoscoliosis, Microcephaly, Short neck, Restl... OMIM:300055
Ivic Syndrome
Severe short stature, Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand p... ORPHA:2307
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Angiostrongyliasis
Hypereosinophilia, Irritability, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Split-Hand/Foot Malformation 3
Camptodactyly, Renal hypoplasia, Split hand OMIM:246560
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K... ORPHA:3101
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Radial deviation of finger, Thrombocytopenia OMIM:188025
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urin... ORPHA:100924
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis, Hand polydactyly OMIM:235740
Van Maldergem Syndrome 1
Hypospadias, Renal hypoplasia, Osteopenia, Growth delay, Clinodactyly, Cutaneous finger syndactyl... OMIM:601390
Isolated Atp Synthase Deficiency
Cerebral cortical atrophy, Renal hypoplasia, 3-Methylglutaconic aciduria, Microcephaly, Hepatomeg... ORPHA:254913
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Oligodactyly, Renal insufficiency, Abnormal m... ORPHA:1307
Diamond-Blackfan Anemia 21
Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Genu valgum, Erythroid hypoplasia, Mic... OMIM:620072
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Seckel Syndrome 8
Short stature, Microcephaly, Ectopic kidney, Kyphoscoliosis OMIM:615807
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... OMIM:612925
Drug-Induced Lupus Erythematosus
Hematuria, Decreased circulating complement C4 concentration, Thrombocytopenia, Anemia, Decreased... ORPHA:231111
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Reni Syndrome
Focal segmental glomerulosclerosis, Mental deterioration, Steroid-resistant nephrotic syndrome, L... OMIM:617575
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Hypoplasia of the corpus callosum, Agenesis... ORPHA:508498
Microphthalmia, Syndromic 9
Severe short stature, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Intrauterine gro... OMIM:601186
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Intrauterine growth retardation, Self-mutilation, Decreased body weight, Hepatomegaly, ... OMIM:619005
Poikiloderma With Neutropenia
Leukopenia, Splenomegaly, Neutropenia, Short stature, Growth delay OMIM:604173
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Leukoencephalopathy, Cerebral atrophy, Intrauterine growth retardation, Diffuse cerebral atrophy,... OMIM:617710
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Necrotizing Enterocolitis
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Small for gestational age ORPHA:391673
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, In... OMIM:606003
Pseudo-Torch Syndrome 1
Failure to thrive, Polymicrogyria, Cerebral calcification, Renal insufficiency, Splenomegaly, Cer... OMIM:251290
Gaucher Disease Type 3
Dementia, Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuri... ORPHA:77261
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Lig4 Syndrome
Failure to thrive, Pancytopenia, Microcephaly, Thrombocytopenia, Micropenis, Clinodactyly of the ... OMIM:606593
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Nephrocalcinosis, Global brain atrophy, Abnormality of the urinary system, Slender lo... ORPHA:369837
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612926
Scholte Syndrome
Small hand, Patellar hypoplasia, Kyphoscoliosis, Short foot, Micropenis, Acromicria OMIM:300977
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Decrea... OMIM:226300
Microphthalmia, Syndromic 13
Short stature, Microcephaly, Kyphoscoliosis OMIM:300915
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Cerebral cortical atrophy, Increased vertebral height, Femoral bowing, Sp... OMIM:248500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac... OMIM:243150
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Hypoplasia of the corpus callosum, Kyphoscoliosis OMIM:616668
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Homocystinuria, Depression, Failure to thrive, Hepatic steatosis, Bicon... OMIM:236200
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell... ORPHA:760
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di... OMIM:253200
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Bone marrow hypocellularity, Decreased circulating IgG level, Heparan sulfate excretion in urine,... ORPHA:505248
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Camptodactyly of finger, Sclerotic vertebral endplates, Enlarged interphalangeal j... OMIM:208230
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... ORPHA:79106
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Ectopic k... OMIM:146510
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Chro... OMIM:615607
Van Maldergem Syndrome 2
Osteopenia, Renal hypoplasia, Cutaneous syndactyly of toes, Growth delay, Clinodactyly, Cutaneous... OMIM:615546
Camurati-Engelmann Disease
Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dysplasia, Abnormal ... ORPHA:1328
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis OMIM:610687
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Postnatal growth retardati... OMIM:302960
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Broad hallux, Failure to thrive, Frequent temper tantrums, Decre... OMIM:617062
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Failure to thrive, Kyphoscoliosis, Talipes equinovarus, Congenital ... ORPHA:536516
Acute Generalized Exanthematous Pustulosis
Cholestasis, Renal insufficiency, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr... ORPHA:293173
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly... ORPHA:95699
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Symphalangism of the thumb, Short toe, Clinodactyly, Recurrent urinary t... OMIM:620494
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Failure to thrive, Oroticaciduria, Leukopenia, S... OMIM:222700
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Talipes equinovarus, Flexion contracture of finger, Ad... OMIM:618484
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Secondary microcephaly, Hypoplasia of the corpus callosu... ORPHA:508488
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Obesity, Brachydactyly OMIM:600151
Spastic Ataxia-Corneal Dystrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Decreased circulating antibody level ORPHA:2572
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Absent radius, Syndactyly, Fused cervical vertebrae, Absent thumb, R... OMIM:607323
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat... OMIM:600802
Allan-Herndon-Dudley Syndrome
Decreased body mass index, Failure to thrive in infancy, Macrocephaly at birth, Kyphoscoliosis, M... ORPHA:59
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Abnormal limb bone morpho... OMIM:118100
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Cerebral atrophy, Intracerebral periventricular calcifications, Basal gangli... OMIM:225750
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir... ORPHA:85212
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Unilateral renal ag... OMIM:620024
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Intrauterine growth retardation, Kyphoscoliosis, Microcephaly, Micropeni... OMIM:610756
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Severe short stature, Short ilia... ORPHA:93316
Simple Cryoglobulinemia
Progressive neurologic deterioration, Nephritis, Monoclonal immunoglobulin M proteinemia, Parapro... ORPHA:91139
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Bifid ureter, Long hallux... ORPHA:500095
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Cone-shape... OMIM:300232
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Weight loss, Gl... ORPHA:99867
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis OMIM:271200
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentati... OMIM:277300
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Failure to thrive, Leukopenia, Absent hand, Pe... ORPHA:974
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Arthrogryposis, Distal, Type 2A
Small for gestational age, Shoulder flexion contracture, Failure to thrive, Hypoplasia of the bra... OMIM:193700
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bo... ORPHA:3103
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hypoplasia of the corpus callosum, Ag... OMIM:613735
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic sp... OMIM:185070
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Mac... OMIM:187900
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Hypopla... OMIM:614922
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis OMIM:619099
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Meckel Syndrome 12
Cerebral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation,... OMIM:616258
Overlap Myositis
Finger swelling, Leukopenia, Subluxation of the small joints of the hand, Thrombocytopenia, Abnor... ORPHA:206572
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Kyphoscoliosis, Arachnodactyly, Long toe, Macrocephaly, Short stature, Growth delay ORPHA:75496
X-Linked Dominant Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Epiphyseal stippling, Kyphoscoliosis, Hydronephrosis, Talipes equ... ORPHA:35173
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ... ORPHA:54251
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Bilateral renal hypoplasia, Preaxial polydactyly,... OMIM:243605
Hermansky-Pudlak Syndrome 10
Cerebral atrophy, Splenomegaly, Microcephaly, Neutropenia, Hepatomegaly OMIM:617050
Noonan Syndrome 4
Large for gestational age, Hydronephrosis, Short neck, Thrombocytopenia, Macrocephaly, Short stat... OMIM:610733
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Stage 3 chronic kidney disease, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
X-Linked Intellectual Disability, Nascimento Type
Clubbing of toes, Hypoplasia of the pons, Overlapping toe, Vesicoureteral reflux, Hypointensity o... ORPHA:163956
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Congenital Myopathy 23
Kyphoscoliosis OMIM:609285
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis OMIM:605588
Acrootoocular Syndrome
Small for gestational age, Short toe, Sandal gap, Short finger, Failure to thrive, Kyphoscoliosis... ORPHA:2980
Myopathy With Extrapyramidal Signs
Leukocytosis, Splenomegaly, Hypoplastic anterior limbs of the internal capsule, Microcephaly, Sho... OMIM:615673
Charcot-Marie-Tooth Disease Type 1A
Kyphoscoliosis ORPHA:101081
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Overlapping toe,... ORPHA:363444
King-Denborough Syndrome
Failure to thrive, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Short stature, Scoliosis, Th... OMIM:619542
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Brucellosis
Sacroiliac arthritis, Hypersplenism, Weight loss, Glomerulonephritis, Anorexia, Hepatomegaly, Dep... ORPHA:1304
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Failure to thrive, Cerebral atrophy, Secondary microcephaly, 3-Methylg... OMIM:617248
Tick-Borne Encephalitis
Depression, Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Diminished abi... ORPHA:297
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Mucolipidosis Type Iii Alpha/Beta
Oligosacchariduria, Keratan sulfate excretion in urine, Postnatal growth retardation, Kyphoscolio... ORPHA:423461
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Confusion, Reticulocytosis, Proteinuria, Schistocytosis, Throm... OMIM:274150
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Mucopolysacchar... OMIM:184095
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Oligodactyly, Microcephaly, Absence of renal corticomedullary differentiation, ... OMIM:619758
Combined Oxidative Phosphorylation Deficiency 32
Horseshoe kidney, Microcephaly, Dysphagia, Kyphoscoliosis OMIM:617664
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... ORPHA:210136
Evans Syndrome
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cerebral calcification, Cirrhosis, Thrombocytopenia, G... OMIM:613987
Radial-Renal Syndrome
Unilateral renal agenesis, Absent thumb, Absent radius, Short stature, Ectopic kidney OMIM:179280
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Aicardi-Goutieres Syndrome 7
Hepatitis, Cerebral atrophy, Intracerebral periventricular calcifications, Basal ganglia calcific... OMIM:615846
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Dilatation of the renal pelvis, Short 5th toe, Hypoplasia of the corpus callosum, Chordee, Microp... ORPHA:268261
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... OMIM:614377
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Renal hypoplasia/aplasia, Weigh... ORPHA:84
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Contracture of the proximal interphalangeal joint of the 3rd finger, ... OMIM:618223
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Intrauterine growth retardation, Self-mutilation, Kyphoscoliosis, Hyp... ORPHA:412035
Congenital Disorder Of Glycosylation, Type Iib
Hand clenching, Cerebral atrophy, Overlapping fingers, Decreased circulating IgA level, Hypoplasi... OMIM:606056
Recon Progeroid Syndrome
Growth delay, Long thumb, Arachnodactyly, Microcephaly, Short stature, Thrombocytopenia, Anemia, ... OMIM:620370
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Microcephaly, Delayed puberty, Ulnar deviation of the hand, Motor deterioration, ... OMIM:612079
Fusariosis
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... ORPHA:228119
Primary Sjögren Syndrome
Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, Increased ci... ORPHA:289390
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hip contracture... OMIM:619503
Ataxia-Oculomotor Apraxia Type 4
Obesity, Short attention span, Kyphoscoliosis, Cognitive impairment, Abnormal toe morphology ORPHA:459033
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Bone marrow hypocellularity, Failure to thrive, Basal ganglia ca... ORPHA:2785
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... OMIM:276950
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol... ORPHA:2330
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly... OMIM:230800
Dyskeratosis Congenita
Bone marrow hypocellularity, Coarse metaphyseal trabecularization, Cerebral calcification, Intrau... ORPHA:1775
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Overlapping fingers, Hypoplasia of the corpus callosu... ORPHA:798
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Splenomegaly, Hep... ORPHA:50918
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Renal hypo... OMIM:618454
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Kyphoscoliosis, Talipes equinovarus, Split hand, Cognitive impairment, Short st... OMIM:604168
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym... ORPHA:227990
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Patellar hypoplasia, Ulnar deviation of the hand or of fingers o... ORPHA:3132
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia, Kyphoscoliosis OMIM:618230
Snakebite Envenomation
Acute kidney injury, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Failure to thrive, Kyphoscoliosis, Diffuse cerebral sclerosis, Microcephaly... OMIM:260600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Renal hypoplasia, Intrauterine growth retardation, Cerebellar hypoplasia, Postaxial hand polydact... ORPHA:75389
Gaucher Disease
Pancytopenia, Increased circulating antibody level, Hematuria, Cirrhosis, Polyclonal elevation of... ORPHA:355
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Talipes equinovarus, Radioulnar synostosis, Aplasi... OMIM:154400
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Zttk Syndrome
Small hand, Absent gallbladder, Hypoplasia of the corpus callosum, Short foot, Cerebellar hypopla... OMIM:617140
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Postnatal growth retardation, Dysplasia of the femoral head, Arachnodac... ORPHA:536467
Diamond-Blackfan Anemia 5
Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short stature, Hypospadias OMIM:612528
Roussy-Levy Hereditary Areflexic Dystasia
Hammertoe, Kyphoscoliosis OMIM:180800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612924
Pseudo-Torch Syndrome 2
Polymicrogyria, Cerebral calcification, Cerebellar hypoplasia, Microcephaly, Abnormal renal corti... OMIM:617397
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Microcephaly, Abnormal cerebral white matter morphology, Kyphoscoliosis ORPHA:370980
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,... OMIM:619194
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Renal malrotation, Horses... OMIM:120330
Gaucher Disease, Perinatal Lethal
Progressive neurologic deterioration, Hepatosplenomegaly, Intrauterine growth retardation, Spleno... OMIM:608013
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Kyphoscoliosis, Dislocation of toes, Talipes equinovarus, Camptodacty... OMIM:300280
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Mental deterioration, Renal insufficiency, Prote... OMIM:254900
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplast... OMIM:616300
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Subcortical white matter calcifications, Cerebellar hypoplasia, Diffuse cerebral atrophy, Thrombo... ORPHA:3240
Warburg Micro Syndrome 3
Cerebral cortical atrophy, Polymicrogyria, Secondary microcephaly, Postnatal growth retardation, ... OMIM:614222
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of... OMIM:114300
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Kyphoscoliosis, Talipes equinovarus, Split hand, Hammertoe OMIM:604563
Riddle Syndrome
Enuresis nocturna, Decreased circulating IgG level, Decreased circulating IgA level, Emotional la... ORPHA:420741
Abetalipoproteinemia
Osteopenia, Hepatic fibrosis, Failure to thrive, Acanthocytosis, Reticulocytosis, Hepatic steatos... ORPHA:14
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased circulating an... ORPHA:51636
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Geroderma Osteodysplasticum
Platyspondyly, Osteopenia, Severe short stature, Hyperextensibility of the finger joints, Femoral... OMIM:231070
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Hypoplasia of the corpus callosum, Arachnodactyly, Cerebellar hemisphere hypo... ORPHA:500150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Congeni... OMIM:605432
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Microcephaly, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... OMIM:114290
Lujo Hemorrhagic Fever
Mental deterioration, Oliguria, Lymphopenia, Leukopenia, Confusion, Leukocytosis, Renal insuffici... ORPHA:319213
Charge Syndrome
Lymphopenia, Postnatal growth retardation, Absent radius, Bilateral talipes equinovarus, Hand mon... OMIM:214800
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Neutrophilia,... ORPHA:3260
Cog1-Cdg
Cerebellar vermis hypoplasia, Temporal cortical atrophy, Osteopenia, Rhizomelia, Failure to thriv... ORPHA:263508
Incontinentia Pigmenti
Leukocytosis, Kyphoscoliosis, Microcephaly, Eosinophilia, Hemivertebrae, Short stature OMIM:308300
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... OMIM:617443
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret... OMIM:143400
Immunodeficiency 59 And Hypoglycemia
Slender finger, Prolonged neonatal jaundice, Complete or near-complete absence of specific antibo... OMIM:233600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Split hand, Hammertoe, Kyphoscoliosis OMIM:118220
Neuroblastoma
Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate... ORPHA:635
Dworschak-Punetha Neurodevelopmental Syndrome
Unilateral renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus callosum, Dysplastic corpu... OMIM:619955
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Hypospadias, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelo... OMIM:301111
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Finger joint hypermobility OMIM:244200
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Global brain atrophy, Hypoplasia of the corpu... ORPHA:457351
Common Variable Immunodeficiency
Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Decreased circulating antibo... ORPHA:1572
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Epiphyseal dysplasia, Osteopenia, Hypoplastic ilia, Flared metaphysis, Carpal syno... OMIM:615349
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Long hallux, Transient neutropenia, Large for gestational age, Nephroblastoma, Rena... OMIM:617107
Avian Influenza
Acute kidney injury, Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Kagami-Ogata Syndrome
Splenomegaly, Kyphoscoliosis, Limb undergrowth, Long fingers, Hepatomegaly, Coxa valga OMIM:608149
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Heparan sulfate excretion in urine, Splenomegaly, Aggressiv... OMIM:252920
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Abnormal renal collecti... OMIM:113650
Congenital Syphilis
Periostitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Intrauterine growth retardation, T... ORPHA:499009
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Growth delay, Horseshoe kidney, Hemimegalencephaly, Hypophosphatemic rickets, Hyperph... OMIM:163200
Jacobsen Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hallux, Agenesis of corpus ... ORPHA:2308
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Microcephaly, Throm... OMIM:224230
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Ir... ORPHA:90038
Q Fever
Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ... ORPHA:781
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Short distal phalanx of finger, Broad thumb, Clinodactyly, Partial duplication of thum... OMIM:616331
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Talipes equinovarus, Split hand, Kyphoscoliosis OMIM:607831
Nager Syndrome
Unilateral renal agenesis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Tri... ORPHA:245
Dyskeratosis Congenita, X-Linked
Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Leukopenia, Intrauterine growth reta... OMIM:305000
Atelis Syndrome 2
Clinodactyly, Microcephaly, Attention deficit hyperactivity disorder, Thrombocytopenia, Anemia, K... OMIM:620185
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Abnormal cortical gyration, Hypointensity of cerebral white matter on MRI, Kyphoscoliosis OMIM:607855
Charcot-Marie-Tooth Disease Type 4D
Split hand, Hammertoe, Kyphoscoliosis ORPHA:99950
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Abnormal circulating cytokine concentration, Coombs-positive h... ORPHA:464343
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Cerebral atrophy, Aspartylglucosaminuria, Spondylolisthesis, Microc... OMIM:208400
Rift Valley Fever
Hepatitis, Increased circulating IgG level, Hematuria, Thrombocytopenia, Anorexia, Anemia, Jaundi... ORPHA:319251
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Recurrent urinary tract infections, Panhypogammaglobulinemia, Absent circu... OMIM:307200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Toe clinodactyly, Hyperextensibility of the finger joints, Bulbous tips of toes... ORPHA:163979
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Leukocyte Adhesion Deficiency Type Ii
Failure to thrive, Cerebral atrophy, Recurrent urinary tract infections, Microcytic anemia, Overl... ORPHA:99843
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym... ORPHA:227982
Systemic Lupus Erythematosus
Depression, Leukopenia, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Lymphadenopathy, Th... ORPHA:536
Gaucher Disease, Type Ii
Progressive neurologic deterioration, Failure to thrive, Cerebral atrophy, Splenomegaly, Hepatome... OMIM:230900
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Decreased circulating ... ORPHA:2136
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Rickets, Failure to thrive, Extramedullary hematopoiesis, Cholestasis, Post... ORPHA:79303
Contractural Arachnodactyly, Congenital
Osteopenia, Ulnar deviation of finger, Congenital kyphoscoliosis, Hip contracture, Kyphoscoliosis... OMIM:121050
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Short stature, Unilateral renal agenesis, Craniosynostosis ORPHA:1064
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Portal hypertension, Splenomegaly, Thrombocytopenia, H... OMIM:619463
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Reduced cerebral white matter volume, Lymph... OMIM:617237
Porphyria, Congenital Erythropoietic
Osteopenia, Cholelithiasis, Splenomegaly, Red urine, Hepatomegaly, Short stature, Pink urine, Thr... OMIM:263700
Insulin-Resistance Syndrome Type B
Nephritis, Decreased circulating complement factor B concentration, Biliary cirrhosis, Glycosuria... ORPHA:2298
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil... ORPHA:183675
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Kyphoscoliosis, Split hand, Scoliosis, Hammertoe OMIM:145900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Dengue Fever
Hepatomegaly, Leukopenia, Thrombocytopenia ORPHA:99828
Immune Thrombocytopenia
Hematuria, Thrombocytopenia ORPHA:3002
Cowden Syndrome 1
Hemimegalencephaly, Lymphopenia, Progressive macrocephaly, Decreased circulating antibody level, ... OMIM:158350
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Monosomy 18P
Kyphoscoliosis, Microcephaly, Short neck, Brachydactyly, Short stature ORPHA:1598
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Shigellosis
Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Failure to thriv... ORPHA:810
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Andersen-Tawil Syndrome
Renal hypoplasia, Small hand, Growth delay, Renal tubular dysfunction, 2-3 toe syndactyly, Clinod... ORPHA:37553
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Farber Disease
Hepatic fibrosis, Short toe, Failure to thrive, Short finger, Hepatosplenomegaly, Lymphadenopathy... ORPHA:333
Immunodeficiency 31C
Osteopenia, Growth delay, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia... OMIM:614162
Distal Deletion 12Q
Overlapping toe, Obsessive-compulsive trait, Short neck, Micropenis, Large hands, Polycystic kidn... ORPHA:96149
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo... ORPHA:536471
Hermansky-Pudlak Syndrome
Abnormality of thrombocytes, Renal insufficiency, Weight loss, Neutropenia, Anorexia ORPHA:79430
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen... OMIM:242700
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal periventricular white matter morphology, Hi... ORPHA:1145
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Rahman Syndrome
Kyphoscoliosis, Talipes equinovarus, Macrocephaly, Camptodactyly, Thin corpus callosum OMIM:617537
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Increased circulating interleukin 6 concen... ORPHA:340
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Split hand, Hammertoe, Kyphoscoliosis OMIM:118200
Thrombocytopenia 6
Osteoporosis, Myelofibrosis, Thrombocytopenia OMIM:616937
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronod... OMIM:251880
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Microcephaly, Fused thoracic vertebrae, Short s... ORPHA:1445
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Progressive neurologic deterioration, Decreased circulating antibody level, Scoliosis, Kyphosis ORPHA:85317
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Herpes Simplex Virus Encephalitis
Cerebral edema, Addictive alcohol use, Leukocytosis, Neutrophilia ORPHA:1930
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development
Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Kyphoscoliosis, Short stature OMIM:255710
Nijmegen Breakage Syndrome
Mental deterioration, Acute leukemia, Autoimmune hemolytic anemia, Microcephaly, Short neck, Cach... ORPHA:647
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Intrahepatic biliary ... ORPHA:1296
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Decreased body weight, Talip... OMIM:271640
Trichohepatoenteric Syndrome 1
Galactosuria, Hepatic fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capital... OMIM:222470
Spinocerebellar Ataxia, Autosomal Recessive 31
Cerebral atrophy, Bruxism, Self-mutilation, Cerebellar hypoplasia, Posterior atrophy of corpus ca... OMIM:619422
Tetrasomy 15Q26
Horseshoe kidney, Intrauterine growth retardation, Kyphoscoliosis, Arachnodactyly, Hydronephrosis... OMIM:614846
Viss Syndrome
Hip dislocation, Failure to thrive, Increased circulating IgE level, Decreased circulating IgA le... OMIM:619472
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Clinodactyly, Hepatitis, Failure to thrive in infancy, Hepatosplenomegaly, Pancytopenia, Hyperspl... ORPHA:228426
Eisenmenger Syndrome
Increased mean corpuscular volume, Brain abscess, Abnormality of the liver, Renal insufficiency, ... ORPHA:97214
Joint Laxity, Short Stature, And Myopia
Short stature, Talipes equinovarus, Cervical kyphosis, Kyphoscoliosis OMIM:617662
Down Syndrome
Atlantoaxial dislocation, Polycythemia, Sandal gap, Obesity, Acute megakaryocytic leukemia, Renal... ORPHA:870
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Short attention span, Nephroblastoma, Ne... ORPHA:137605
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Hydronephrosis, Microcephaly, Motor stereotypy, Contracture of the prox... OMIM:620141
Osteogenesis Imperfecta
Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification... ORPHA:666
Optic Atrophy 11
Leukoencephalopathy, Stereotypical body rocking, Splenomegaly, Cerebellar hypoplasia, Microcephal... OMIM:617302
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Annular pancreas, Irregular epiphyses, Sclerosis of skull base, Delayed pubic bone os... OMIM:618162
Von Willebrand Disease
Abnormality of thrombocytes, Deviation of finger, Microcytic anemia, Thrombocytopenia, Abnormal p... ORPHA:903
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Toe syndactyly, Camptodactyly of finger, Camptodactyly of toe, Microce... ORPHA:261337
Pseudotrisomy 13 Syndrome
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Polymicrogyria, Agenesis of corpus ... OMIM:264480
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300554
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Secondary microcephaly, Self-injurious behavior, Agitation, Kyphoscoliosis OMIM:618339
Deeah Syndrome
Exocrine pancreatic insufficiency, Overlapping fingers, Intrauterine growth retardation, Self-mut... OMIM:619004
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, F... OMIM:300009
Staphylococcal Necrotizing Pneumonia
Confusion, Leukopenia, Leukocytosis, Addictive alcohol use, Neutrophilia ORPHA:36238
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Hypoplasia of the corpus callosum, ... OMIM:602535
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Genu valgum, Hematuria, Proximal renal tubular acidosis, Motor stereotypy, Hip disl... ORPHA:534
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Intrauterine growth retardation, Hypoplasia of the corpus callosum, Macrocytic anemi... OMIM:614294
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Hypoplasia of the corpus callosum, Irritability, Abnormal diffusion weigh... OMIM:620423
Coccidioidomycosis
Abnormality of the spleen, Abscess, Abnormality of the bladder, Abnormal metacarpal morphology, C... ORPHA:228123
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Spondylolysis, Cerebral calcification, Abnormal basal ganglia morphology, Abnormality of the live... ORPHA:464321
Stevens-Johnson Syndrome
Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Dysphagia, Thrombocyt... ORPHA:36426
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, Hyperactivity, H... OMIM:252900
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, Increased ... ORPHA:244242
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Biconcave vertebral bodies, Kyphoscoliosis, Coxa vara, Short statu... OMIM:610968
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Renal hypoplasia, Camptodactyly of finger, Absent hand, Obesity, ... ORPHA:3138
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Cerebral edema, Thrombocytopenia, Dicarboxylic aciduria OMIM:611126
Musculocontractural Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Slender finger, Cervical kyphosis, Functional abnormality of the bladde... ORPHA:2953
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Hypoplasia of the corpus callosum, Agenesis of corpus ca... ORPHA:457284
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Intrauterine growth retardation, Thrombocytopenia, Small for gestational age, Nor... OMIM:618775
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Infancy onset short-trunk short stature, Genu valgum, Beaking of verte... ORPHA:1159
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st met... OMIM:620305
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral atrophy, Hypoplasia of the brainstem,... ORPHA:572798
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Hepat... OMIM:612852
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys... OMIM:617641
Paternal Uniparental Disomy Of Chromosome 5
Rhizomelic arm shortening, Renal duplication, Kyphoscoliosis, Short lower limbs, Abnormal fibular... ORPHA:96190
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Slender long bone, Thrombocytopenia ORPHA:96181
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Absence of the sacrum, Butterfly vertebrae, Vesicoureteral reflux, Microcephaly... OMIM:617660
Williams Syndrome
Genu valgum, Overfriendliness, Radioulnar synostosis, Osteopenia, Cholelithiasis, Depression, Fai... ORPHA:904
Larsen-Like Syndrome
Radial deviation of the 4th finger, Kyphoscoliosis, Talipes equinovarus, Bipartite calcaneus, Mac... OMIM:608545
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Irritability, 3-hydroxyisovaler... OMIM:253270
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis, Eunuchoid habitus OMIM:308750
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Bulgi... OMIM:241530
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, C... ORPHA:73272
Central Core Disease
Talipes equinovarus, Congenital hip dislocation, Kyphoscoliosis ORPHA:597
Floating-Harbor Syndrome
Dilatation of the renal pelvis, Clinodactyly, Short neck, Broad fingertip, Dislocated radial head... ORPHA:2044
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, Hepatomegaly, Ge... ORPHA:829
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Granuloma, Abnormal tibia morphology, Genu valgum, Hypoplasia of the corpus callosum, Kyphoscolio... ORPHA:363700
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Overlapping toe, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Argininemia
Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Postnatal growth retardatio... OMIM:207800
Chst3-Related Skeletal Dysplasia
Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val... ORPHA:263463
Autosomal Recessive Spastic Paraplegia Type 23
Horseshoe kidney, Short stature, Hip dislocation, Kyphoscoliosis ORPHA:101003
Hajdu-Cheney Syndrome
Hypospadias, Osteopenia, Foot acroosteolysis, Failure to thrive, Tall lumbar vertebral bodies, Di... OMIM:102500
Microcephalic osteodysplastic primordial dwarfism, type III
Severe short stature, Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital fem... OMIM:210730
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B... ORPHA:293978
Coffin-Siris Syndrome 1
Postnatal growth retardation, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the patell... OMIM:135900
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Osteopenia, Postnatal growth retardation, Pyelonephritis, Intrauterine... ORPHA:90348
Renal And Mullerian Duct Hypoplasia
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia, Severe postnatal growth... OMIM:266810
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Dilatation of the renal pelvis, Hypoplasia of the pons, Polymicrogyria, Lymphopenia, Overlapping ... OMIM:619708
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Thoracolumbar sco... OMIM:301068
De Barsy Syndrome
Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Osteopenia, Congenital hip dis... ORPHA:2962
Congenital Erythropoietic Porphyria
Osteopenia, Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Increased urinary p... ORPHA:79277
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Pancytopenia, Leukopenia, Erythroid hype... ORPHA:447
Epilepsy-Telangiectasia Syndrome
Short 5th finger, Decreased circulating IgA level, Decreased circulating antibody level, Short st... ORPHA:1951
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq... OMIM:143095
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t... OMIM:256500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Subperiosteal bone resorption, Ricket... OMIM:264700
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Memory impairment, Renal insufficienc... ORPHA:33226
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Dicarboxylic aciduria, Hepatic steatosis, Thrombocytopenia, Cerebral edema ORPHA:99901
Autosomal Recessive Hypophosphatemic Rickets
Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Growth delay, Ost... ORPHA:289176
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
2-3 toe cutaneous syndactyly, Cerebellar vermis hypoplasia, Depression, Failure to thrive, Second... OMIM:620242
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Eunuchoid habitus OMIM:308700
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Distal Duplication 17Q
Accessory spleen, Severe short stature, Rhizomelia, Overlapping toe, Genu valgum, Vesicoureteral ... ORPHA:3379
Pneumocystosis
Abnormal neutrophil count, Weight loss, Increased circulating antibody level ORPHA:723
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th... OMIM:184100
Dystonia-Deafness Syndrome 1
Hypoplastic scapulae, Pseudobulbar paralysis, Kyphoscoliosis, Femoral retroversion, Dysphagia, Sm... OMIM:607371
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Rocker bottom foot, Annular pancreas, Clinodactyly, Overlapping toe, Intrauterine gro... ORPHA:488642
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Immunodeficiency 87 And Autoimmunity
Growth delay, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Cervical lymphadenopathy, Intrau... OMIM:619573
Frank-Ter Haar Syndrome
Osteopenia, Growth delay, Flared metaphysis, Cortical irregularity, Hypoplasia of the corpus call... OMIM:249420
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Increased circulating interleukin 8 concentration, Microcy... OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrocephaly, Kyphoscoliosis OMIM:300886
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Charcot-Marie-Tooth Disease, Type 4A
Ulnar claw, Hammertoe, Kyphoscoliosis OMIM:214400
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Renal agenesis, Aplasia of th... OMIM:200980
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the ha... OMIM:184253
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Pontocerebellar Hypoplasia, Type 10
Cerebral cortical atrophy, Reduced cerebral white matter volume, Hypoplasia of the corpus callosu... OMIM:615803
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove... OMIM:304120
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c... OMIM:620454
Wilson Disease
Osteomalacia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice, Dysphagia, Increased urinary ... OMIM:277900
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Bacterial Toxic-Shock Syndrome
Hepatitis, Recurrent urinary tract infections, Confusion, Renal insufficiency, Abscess, Increased... ORPHA:36234
Nijmegen Breakage Syndrome-Like Disorder
Short stature, Microcephaly, Decreased circulating antibody level, Growth delay OMIM:613078
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Growth delay, Prominent fingertip pads, Failure to thrive, Bruxism, Unilateral renal hypoplasia, ... OMIM:619950
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis OMIM:616684
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Clinodactyly, Radial deviation of finger, Failure to thrive in ... OMIM:163950
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Absence of the sacrum, Ureteral stenosis, Cerebral atrophy, Abdominal situs inv... OMIM:270100
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Ren... OMIM:232240
Caroli Syndrome
Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita... ORPHA:480520
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Kyphoscoliosis, Abnor... ORPHA:53721
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Leopard Syndrome 1
Unilateral renal agenesis, Delayed menarche, Kyphoscoliosis, Short neck, Short stature, Delayed p... OMIM:151100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Kyphoscoliosis, Talipes equinovarus, Short neck, Long fingers, Thin bony cortex, Sho... OMIM:309583
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Failure to thrive, Ureteral stenosis, Flare... OMIM:309350
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Microcephaly, Scoliosis, Patellar hypoplasia OMIM:251240
Congenital Myopathy 17
Hand clenching, Renal hypoplasia, Clinodactyly, Failure to thrive in infancy, Overlapping toe, Ov... OMIM:618975
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux OMIM:606408
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... OMIM:252500
Zygomycosis
Nephritis, Brain abscess, Hepatitis, Renal insufficiency, Peritonitis, Pancreatitis, Splenic absc... ORPHA:73263
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Micronodular cirrhosis, Neuronal loss in the cerebral cortex, Splenome... OMIM:301072
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Stomatocytosis, Intracerebral periventricular calcifications, Postn... ORPHA:168577
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... OMIM:301050
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Hypoplasia of the ... ORPHA:2729
Ane Syndrome
Kyphoscoliosis, Microcephaly, Delayed puberty, Ulnar deviation of the hand, Motor deterioration, ... ORPHA:157954
Peters-Plus Syndrome
Square pelvis bone, Postnatal growth retardation, Agenesis of corpus callosum, Decreased body wei... OMIM:261540
Williams-Beuren Syndrome
Obsessive-compulsive trait, Radioulnar synostosis, Osteopenia, Failure to thrive in infancy, Obes... OMIM:194050
Renal Cysts And Diabetes Syndrome
Cerebral cortical atrophy, Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hy... OMIM:137920
Japanese Encephalitis
Abnormality of the internal capsule, Abnormal substantia nigra morphology, Anorexia, Abnormal cau... ORPHA:79139
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Cardiac-Valvular Ehlers-Danlos Syndrome
Sandal gap, Recurrent shoulder dislocation, Genu valgum, Kyphoscoliosis, Hallux valgus, Thoracolu... ORPHA:230851
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth... OMIM:620133
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:277440
Jacobsen Syndrome
Annular pancreas, Failure to thrive, Intrauterine growth retardation, Microcephaly, Short neck, B... OMIM:147791
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Anorexia, Confusion, Pancytopenia, Leukopenia, Leukocytosis, Spl... ORPHA:99827
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Cogn... ORPHA:731
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Broad thumb, Finger syndactyly, Pyelonephritis, Rena... OMIM:181270
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cholelithiasis, Depression, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of th... ORPHA:77293
Neuroleptic Malignant Syndrome
Acute kidney injury, Leukocytosis, Proteinuria, Delirium, Myoglobinuria, Thrombocytopenia, Thromb... ORPHA:94093
Kniest Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Flared metaphy... OMIM:156550
Autosomal Dominant Kenny-Caffey Syndrome
Growth delay, Postnatal macrocephaly, Basal ganglia calcification, Postnatal growth retardation, ... ORPHA:93325
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Failure to thrive, Cervical lymphadenopathy, Lymphocytosis, Lymph... OMIM:617718
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal odontoid process morphology, Genu valgum, Delayed pubic bone ossification, Metaphyseal s... ORPHA:2976
Ogden Syndrome
Postnatal growth retardation, Short neck, Jaundice, Macrovesicular hepatic steatosis, Polycystic ... OMIM:300855
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Clubbing of fingers, Scoliosis, Dysphagia, Kyphoscoliosis OMIM:619574
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Anemia, Craniosynostosis, Decreased circulating antibody level, Growth delay ORPHA:79396
Crisponi/Cold-Induced Sweating Syndrome 1
Radial deviation of finger, Kyphoscoliosis, Talipes equinovarus, Short neck, Adducted thumb, Camp... OMIM:272430
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria OMIM:619053
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Restlessness, Heparan sulfate excretion in urine, Oppositional defiant diso... OMIM:252940
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Growth delay,... ORPHA:2072
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Abnormal distal phalanx morphology of finger, Intrauterine growth reta... ORPHA:2673
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Fib... OMIM:600081
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Increased hepatic echogenicity, Failure to thrive, Microcytic anemia, Splen... OMIM:619525
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Neuromuscular dysphagia, Kyphoscoliosis, Neurogenic bladder, Hip ... ORPHA:466722
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short distal phalanx of finger, Renal hypoplasia, Failure to thrive, Recurrent urinary tract infe... OMIM:617157
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Abnormality of T cell phys... ORPHA:2237
Autosomal Recessive Spastic Paraplegia Type 9B
Cerebral cortical atrophy, Growth delay, Urinary retention, Abnormal periventricular white matter... ORPHA:447760
Noonan Syndrome 14
Clinodactyly, Lymphopenia, Short neck, Short stature, Kyphosis OMIM:619745
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... OMIM:601399
Gaisböck Syndrome
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Failure to ... OMIM:118450
Primary Dystonia, Dyt4 Type
Dementia, Eunuchoid habitus, Dysphagia, Kyphoscoliosis ORPHA:98805
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Arachnodactyly, Slender toe, Long toe, Short stature, Ectopic kidney, Osteoporosi... ORPHA:3063
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Hip dislocation, Sandal gap, Equinus calcaneus, Abnormal toe morphology, Thoracic sco... ORPHA:536532
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Thin metacarpal cortices, Kyphoscoliosis, Bowed humerus, Short stature, Osteoporos... OMIM:616507
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Depression, Oral-pharyngeal... ORPHA:95455
Generalized Pustular Psoriasis
Lymphopenia, Obesity, Leukocytosis, Renal insufficiency, Overweight ORPHA:247353
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Short attention span, ... OMIM:608747
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Slender finger, Renal hypoplasia, Clinodactyly, Radial deviation of finger, Obesity, Genu valgum,... OMIM:309580
Charcot-Marie-Tooth Disease, Type 4D
Talipes cavus equinovarus, Hammertoe, Kyphoscoliosis OMIM:601455
Episodic Ataxia Type 1
Hand clenching, Scoliosis, Kyphoscoliosis ORPHA:37612
Sweet Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:3243
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Cushing Disease
Depression, Memory impairment, Decreased eosinophil count, Increased urinary cortisol level, Lymp... ORPHA:96253
Aicardi-Goutières Syndrome
Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Increased circulating interfe... ORPHA:51
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Agenesis of corpus cal... ORPHA:264200
Phakomatosis Pigmentokeratotica
Hemiatrophy, Unilateral renal hypoplasia, Hypophosphatemic rickets, Nephroblastoma, Renal transit... ORPHA:2874
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Horseshoe kidney,... OMIM:600057
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Periventricular white matter hy... OMIM:602668
Parkinson-Dementia Syndrome
Dementia, Kyphoscoliosis OMIM:260540
Yellow Fever
Acute kidney injury, Anuria, Pancreatic hyperplasia, Leukocytosis, Renal insufficiency, Low back ... ORPHA:99829
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Acute kidney injury, Oliguria, Brain abscess, Anuri... ORPHA:544482
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co... ORPHA:288
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Vertebral wedging, Calcification of falx cerebri, Kyphoscolios... OMIM:109400
Blue Rubber Bleb Nevus
Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Floating-Harbor Syndrome
Broad thumb, Short neck, Broad fingertip, Dislocated radial head, Hypospadias, Cone-shaped epiphy... OMIM:136140
Atypical Progressive Supranuclear Palsy Syndrome
Dementia, Mental deterioration, Inappropriate behavior, Kyphoscoliosis ORPHA:99750
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H... ORPHA:1652
Robinow Syndrome
Webbed penis, Short distal phalanx of finger, Multicystic kidney dysplasia, Small for gestational... ORPHA:97360
Congenital Myasthenic Syndrome
Spinal rigidity, Congenital hip dislocation, Kyphoscoliosis, Choking episodes, Dysphagia, Neuropa... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Spinal rigidity, Congenital hip dislocation, Kyphoscoliosis, Choking episodes, Dysphagia, Neuropa... ORPHA:98914
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Agenesis of corpus callosum, Renal hypop... ORPHA:2538
Wiedemann-Rautenstrauch Syndrome
Slender build, Hepatic steatosis, Agenesis of corpus callosum, Hypospadias, Irregular sclerotic e... ORPHA:3455
Sarcoidosis
Nephrocalcinosis, Abnormal lymph node morphology, Leukopenia, Renal insufficiency, Portal hyperte... ORPHA:797
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Neutrophilia OMIM:614204
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... ORPHA:3109
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Liver Disease, Severe Congenital
Portal inflammation, Macrocephaly at birth, Hepatic steatosis, Abnormal hepatic echogenicity, Hep... OMIM:619991
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Congenital hip dislocation, Atlantoaxial instability, Congenital kyphoscoliosis, Kyph... ORPHA:536545
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Biconcave vertebral bodies, Kyphoscoliosis, Tibial bowing, Microcephal... OMIM:259770
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Abnormality of humoral immunity, Abnormal hip bone morphology, Abnormal e... ORPHA:642
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially duplicated kidney, Macroscopi... ORPHA:274
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Mental deterioration, Global brain atrophy, Depression, Eye of the tiger anomaly of ... OMIM:234200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Ketonuria, Increased urinary glycerol, Cholestasis, Failure to thrive in infancy, Hepatosplenomeg... ORPHA:247598
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Disproportionate short-limb short stature, Abnormal pelvis bone ossification, M... ORPHA:93271
Loeys-Dietz Syndrome 5
Flexion contracture of toe, Failure to thrive in infancy, Spondylolisthesis, Kyphoscoliosis, Arac... OMIM:615582
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Postnatal growth r... ORPHA:3404
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Agenesis of corpus callosum, Abnormal... ORPHA:857
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Choreoacanthocytosis
Mental deterioration, Acanthocytosis, Emotional lability, Hair-pulling, Frontal cortical atrophy,... ORPHA:2388
Osteogenesis Imperfecta, Type Xx
Disproportionate short-limb short stature, Intrauterine growth retardation, Kyphoscoliosis, Micro... OMIM:618644
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Weight loss, Increased circulating IgA level, Lymphadenopathy, ... ORPHA:79078
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Macrocephaly, Slender bu... OMIM:300967
Riddle Syndrome
Short stature, Microcephaly, Decreased circulating IgG level OMIM:611943
Primary Biliary Cholangitis
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegaly, Abnormal intra... ORPHA:186
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis OMIM:616470
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Decreased urinary lysyl-pyridinoline-hydroxylysy... OMIM:225400
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Hypospadias, Ren... OMIM:107480
Renpenning Syndrome 1
Renal hypoplasia, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Cerebr... OMIM:309500
Wiedemann-Steiner Syndrome
Abnormal corpus callosum morphology, Rhizomelia, Clinodactyly, Failure to thrive, Postnatal growt... ORPHA:319182
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Multicystic kidney dysplasia, Unilateral renal agenesis, Hip dislocation, Renal agen... OMIM:308205
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Weight loss, Polyc... ORPHA:171
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Kyphoscoliosis, Talipes eq... OMIM:268400
Immunodeficiency 58
Failure to thrive, Cutaneous abscess, Decreased specific antibody response to vaccination, Decrea... OMIM:618131
Acute Liver Failure
Acute kidney injury, Depression, Hepatitis, Hepatocellular necrosis, Hepatic periportal necrosis,... ORPHA:90062
3Q27.3 Microdeletion Syndrome
Arachnodactyly, Thick corpus callosum, Emotional lability, Kyphoscoliosis ORPHA:397695
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Ky... OMIM:618820
You-Hoover-Fong Syndrome
Clinodactyly, Kyphoscoliosis, Microcephaly, Brachydactyly, Paroxysmal bursts of laughter OMIM:616954
Mohr-Tranebjaerg Syndrome
Mental deterioration, Global brain atrophy, Agammaglobulinemia, Attention deficit hyperactivity d... ORPHA:52368
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Diffuse white matter abnormalities, Cerebral cortical atrophy, Macrocephaly, Lumbar hyperlordosis... ORPHA:457359
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Ves... ORPHA:2363
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Kagami-Ogata Syndrome
Postnatal growth retardation, Large for gestational age, Kyphoscoliosis, Short neck, Hepatoblasto... ORPHA:254519
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Kyphoscoliosis ORPHA:324410
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Abnormal temper tantrums, Mental deterioration, Growth dela... ORPHA:580
Vici Syndrome
Cerebral cortical atrophy, Decreased circulating IgG level, Hypoplasia of the pons, Renal tubular... ORPHA:1493
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Neutr... OMIM:249100
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Agenesis of corpus callosum, T... OMIM:180849
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... OMIM:615709
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Camptodactyly of finger, Slender build, Arachnodactyly, Scoliosis ORPHA:115
Netherton Syndrome
Aminoaciduria, Increased circulating IgE level, Hydronephrosis, Short stature, Decreased circulat... ORPHA:634
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Renal agenesis, Polysplenia, Abnormal tibia morphology, Absent ... ORPHA:1335
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... ORPHA:31150
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Re... OMIM:607932
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Renal agenesis OMIM:608980
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Inappropriate behavior, Cerebral atrophy, Abnormal... ORPHA:309246
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Intellectual Developmental Disorder, Autosomal Recessive 78
Microcephaly, Clinodactyly of the 5th finger, Brachydactyly, Kyphoscoliosis OMIM:620237
Fraser Syndrome 1
Abnormal cortical gyration, Renal hypoplasia, Cutaneous finger syndactyly, Wide pubic symphysis, ... OMIM:219000
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Wrinkly Skin Syndrome
Cerebellar vermis hypoplasia, Osteopenia, Congenital hip dislocation, Failure to thrive, Postnata... ORPHA:2834
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Memory impairment, Decreased eosinophil count, Increased urinary cortisol level, Lymp... ORPHA:99889
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Secondary microcephaly, Long hallux, Genu valgum, Hypoplasia of the... ORPHA:261537
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Emotional lability, Biconcave vertebral bodies, Nephroli... OMIM:219090
Arthrogryposis And Ectodermal Dysplasia
Camptodactyly, Microcephaly, Short stature, Kyphoscoliosis OMIM:601701
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Atlantoaxial instability, Kyphoscoliosis, Bladder diverticulum, Talipes equinovarus OMIM:614557
Restrictive Dermopathy 1
Rocker bottom foot, Overtubulated long bones, Intrauterine growth retardation, Kyphoscoliosis, De... OMIM:275210
Microphthalmia, Syndromic 1
Hypospadias, Renal hypoplasia, Hydroureter, Clinodactyly, Prominent fingertip pads, Radial deviat... OMIM:309800
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Failure to thrive, Hip contracture, Kyphoscoliosis, Talipes equinovar... ORPHA:2020
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Synostosis involving the 1st metacarpal, Pseudobulbar paralysis, Slender build... ORPHA:466791
Proboscis Lateralis
Abnormal corpus callosum morphology, Unilateral renal agenesis, Duplication of renal pelvis, Uret... ORPHA:141099
Pmm2-Cdg
Platyspondyly, Cerebellar vermis hypoplasia, Osteopenia, Hepatic fibrosis, Failure to thrive, Kyp... ORPHA:79318
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypoplastic anterior commissure, Secondary microcephaly, Long hallu... ORPHA:261552
Congenital Myopathy 13
Kyphoscoliosis, Microcephaly, Short stature, Bilateral talipes equinovarus, Scoliosis OMIM:255995
Liver Failure, Infantile, Transient
Decreased circulating IgG level, Dicarboxylic aciduria, 3-hydroxydicarboxylic aciduria, Microvesi... OMIM:613070
Lassa Fever
Oliguria, Jaundice, Increased circulating IgM level, Dysphagia, Back pain ORPHA:99824
Cutis Laxa, Autosomal Recessive, Type Iic
Hand clenching, Nephrocalcinosis, Overlapping toe, Kyphoscoliosis, Decreased body weight, Talipes... OMIM:617402
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad thumb, Secondary microcephaly, Emotional lability, Social and occupational deterioration, H... ORPHA:353281
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Broad hallux, Polymicrogyria, Preaxial polydactyly, Unilateral rena... OMIM:615948
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Genu valgum, Hypoplasia of the corpus callosum, Agenesis of corpus ... ORPHA:2152
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Lymphadenopathy, Hepatomegaly, Growth delay ORPHA:343
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Hypoplasia of the corpus callosum, Kyphoscoliosis, Talipes equinovarus, Campto... OMIM:617403
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad thumb, Secondary microcephaly, Postnatal growth retardation, Emotional lability, Abnormalit... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad thumb, Secondary microcephaly, Postnatal growth retardation, Emotional lability, Abnormalit... ORPHA:353277
Multiple Endocrine Neoplasia Type 2
Elevated urinary norepinephrine level, Cervical lymphadenopathy, Elevated urinary vanillylmandeli... ORPHA:653
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Confusion, Thrombocytopenia, Delirium ORPHA:466650
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Charcot-Marie-Tooth Disease Type 4B2
Scoliosis, Kyphoscoliosis ORPHA:99956
Leptospirosis
Acute kidney injury, Hepatitis, Cellular urinary casts, Lymphadenopathy, Thrombocytopenia, Anorex... ORPHA:509
Wolfram Syndrome 2
Depression, Neurogenic bladder, Impaired collagen-induced platelet aggregation, Decreased circula... OMIM:604928
Alopecia Antibody Deficiency
Short stature, Decreased circulating antibody level ORPHA:1006
Postinfectious Vasculitis
Abnormality of humoral immunity, Ischemic stroke, Increased circulating antibody level, Hematuria... ORPHA:48435
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Marfan Syndrome
Equinus calcaneus, Spondylolisthesis, Kyphoscoliosis, Arachnodactyly, Metatarsus adductus, Campto... OMIM:154700
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Reynolds Syndrome
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice OMIM:613471
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Secondary microcephaly, Hypoplasia of the corpus callosum... OMIM:601803
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Granuloma, Cholestasis, Interface hepatitis, Sclerosing cholangitis, G... ORPHA:562639
Lead Poisoning
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology ORPHA:330015
Trichothiodystrophy 1, Photosensitive
Short stature, Microcephaly, Decreased circulating IgG level, Small for gestational age OMIM:601675
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Immunodeficiency 56
Failure to thrive, Panhypogammaglobulinemia, Chronic hepatitis due to cryptosporidium infection, ... OMIM:615207
Neurofibroma
Abnormal biliary tract morphology, Macrocephaly, Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Basilar Impression, Primary
Short neck, Kyphoscoliosis OMIM:109500
Ring Chromosome 7 Syndrome
Short 5th finger, Cerebral cortical atrophy, Small hand, Slender finger, 3-4 toe syndactyly, Genu... ORPHA:1449
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level, Renal dysplasia, Polyuria OMIM:618183
Distal Deletion 19P
Arachnodactyly, Long toe, Decreased circulating antibody level ORPHA:96129
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56

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 Son

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 Son.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Sonem1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Sonem1(IMPC)Wtsi Point Mutation Mice
Sontm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sontm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Sonem1(IMPC)Bay Exon Deletion Mice

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