Gene Summary

Name:
BRISC and BRCA1 A complex member 1
Synonyms:
5430437P03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged heart Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
increased eosinophil cell number Babam1em1(IMPC)Ccpcz HOM Early adult 3.62×10-08
abnormal eye morphology Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal head morphology Babam1em1(IMPC)Ccpcz HOM Early adult 2.57×10-06
single kidney Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
increased freezing behavior Babam1em1(IMPC)Ccpcz HOM Early adult 4.22×10-08
impaired contextual conditioning behavior Babam1em1(IMPC)Ccpcz HOM Early adult 1.27×10-05
small kidney Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
decreased NK T cell number Babam1em1(IMPC)Ccpcz HOM   Early adult 4.61×10-05
enlarged thymus Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
impaired cued conditioning behavior Babam1em1(IMPC)Ccpcz HOM Early adult 2.90×10-06
anophthalmia Babam1em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating alanine transaminase level Babam1em1(IMPC)Ccpcz HOM Early adult 1.34×10-05
increased cardiac muscle contractility Babam1em1(IMPC)Ccpcz HOM Early adult 6.58×10-05
increased liver weight Babam1em1(IMPC)Ccpcz HOM   Early adult 3.34×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Forepaw

14 Images

Human diseases caused by Babam1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Babam1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:619267
Thrombocythemia 2
Thrombocytosis OMIM:601977
Thrombocythemia 3
Thrombocytosis OMIM:614521
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet... OMIM:273800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Ventricular septal defect, Att... OMIM:618504
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Bleeding Disorder, Platelet-Type, 11
Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu... OMIM:614201
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo... OMIM:614009
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Impaired ADP-induced platel... OMIM:155100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... ORPHA:3318
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Follic... OMIM:603909
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... OMIM:209950
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a... OMIM:601859
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Bi... OMIM:618845
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Renal insufficiency, Cryptorchidism, Attention deficit... ORPHA:281090
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis OMIM:604416
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... OMIM:226990
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Elevated circulating hepatic transaminase concen... OMIM:614576
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ... OMIM:615888
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Cryptorchidism, Patent fo... OMIM:618494
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aggres... ORPHA:3306
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia OMIM:615524
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Roifman Syndrome
Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa... OMIM:616651
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Microphthalmia, Cardiomegaly, H... ORPHA:858
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Anophthalmia, Microphthalmia, Pericardial effusion, Polycystic kidney dys... OMIM:613885
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Hepatic cysts, Eosinophilia, Membranous nephropathy, Nephrotic syndrome, Eosi... OMIM:618999
Immunodeficiency 88
Eosinophilia OMIM:619630
Ethanolaminosis
Cardiomegaly OMIM:227150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:617661
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Elevated circulating C-reactive ... OMIM:607115
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, N... OMIM:620454
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Secundum atrial septal defect... ORPHA:2260
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... ORPHA:39041
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... ORPHA:79284
Trisomy 13
Abnormality of the ureter, Cryptorchidism, Anophthalmia, Displacement of the urethral meatus, Hyd... ORPHA:3378
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Atrial septal ... OMIM:618142
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Ascites, Leukocytosis, Eosinophilia, Elevated circulating C-reacti... ORPHA:2070
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:609757
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-p... ORPHA:169160
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Abnormal pericardiu... ORPHA:183
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly... ORPHA:331206
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Abnormal circulating lipid c... OMIM:616541
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect OMIM:601355
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horse... OMIM:601186
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi... OMIM:212140
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Anop... ORPHA:2470
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu... OMIM:304790
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomega... OMIM:269920
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Attention deficit hyperactivity disorder OMIM:619504
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Unilateral renal agenesis, Anemia of inadequate production, Bicuspid... OMIM:614900
Alveolar Echinococcosis
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal pericardium morphology, ... ORPHA:284
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Nephroblastoma, Ventricular septal ... OMIM:610832
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux ORPHA:2512
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hepatomegaly... OMIM:252920
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Burn-Mckeown Syndrome
Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:608572
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... ORPHA:57777
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib OMIM:603585
Fliedner-Zweier Syndrome
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular sep... OMIM:620511
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormal heart m... ORPHA:363444
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis OMIM:614034
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Chronic hepatitis, Myocardial eosinophilic infiltration, Neutrophilia, Myelop... ORPHA:3260
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hema... ORPHA:449395
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Corneal neovascularization, Autoimmune hemolytic anemia, Elevate... OMIM:617388
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec... OMIM:609029
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,... OMIM:615952
Von Willebrand Disease, Type 3
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis OMIM:226300
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Increased circulating IgA level, Thrombocytosis, Anemia, Increased circu... OMIM:615934
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Von Willebrand Disease
Microcytic anemia, Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia ORPHA:903
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy... OMIM:243150
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Emanuel Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Cryptorchidism, Ventricular s... ORPHA:96170
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... ORPHA:324636
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Eosinophilia, Atrial septal defect, Sterile abscess, Pulmonic stenosis OMIM:618282
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Leukemia, Supernumerary nipple, Vesicou... OMIM:619951
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:90324
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Ventricular hypertrophy, Lymphopenia, Pancytopenia, ... OMIM:620654
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections, Ventricular sept... OMIM:613680
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Esophagitis, Eosinophilic, 1
Eosinophilia, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Dysphagia OMIM:613412
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Renal agenesis OMIM:601076
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li... OMIM:256550
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... OMIM:137920
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... OMIM:618886
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:244200
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Aspergillosis
Hepatitis, Eosinophilia, Neutropenia, Abnormality of the kidney, Intracranial hemorrhage ORPHA:1163
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Igg4-Related Pachymeningitis
Mental deterioration, Nephritis, Lymphadenitis, Parotitis, Confusion, Eosinophilia, Pancreatitis,... ORPHA:449427
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Anophthalmia ORPHA:411986
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Renal insuffi... ORPHA:293173
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Pituitary adenoma, Hepatitis, Macrocytic anemia, Hyperuricemia, H... ORPHA:199299
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Unilateral renal agenesis, Attention deficit hyperactivity di... OMIM:619227
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hyperammonemia, ... OMIM:600649
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Abnormal cardiac sep... OMIM:616737
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia OMIM:206750
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy... ORPHA:85447
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse... ORPHA:2538
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin... OMIM:212750
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Vesicoureteral reflux, Quadricuspid aortic valve, Mitral valve prolapse OMIM:606408
Trisomy 1Q
Multicystic kidney dysplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hydronephr... ORPHA:261344
Braddock Syndrome
Unilateral renal agenesis, Pulmonary arterial hypertension ORPHA:52047
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Vesicoureteral refl... ORPHA:2237
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Hyp... ORPHA:77298
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Cryptorchidism, Ventricul... ORPHA:464311
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr... OMIM:113650
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Vasculitis in the skin, Neutropenia, Membranoproliferative gl... OMIM:615816
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert... OMIM:201475
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Attention deficit hyper... OMIM:614083
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, Decreased proportion o... OMIM:243700
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis ORPHA:2902
Wells Syndrome
Eosinophilia ORPHA:901
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Horseshoe kidney, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, D... ORPHA:508533
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, D... OMIM:618213
Houge-Janssens Syndrome 2
Unilateral renal agenesis OMIM:616362
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f... OMIM:115197
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Confusion, Increased urinary porphobili... ORPHA:100924
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim... OMIM:614074
Coccidioidomycosis
Vasculitis, Vasospasm, Granuloma, Abnormality of the spleen, Abnormality of the liver, Cerebral i... ORPHA:228123
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Du... OMIM:270400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Arrhythmia, Hepatomegaly, Tubulointersti... ORPHA:228308
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis, Cryptorchidism, Testicular atrophy OMIM:308750
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Renal insufficiency, Cryptorchidism, Ano... ORPHA:90321
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Mental deterioration, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitati... OMIM:619051
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con... OMIM:619313
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Reduced natural killer cell count, Recurrent urinary tract infections,... ORPHA:221139
Shashi-Pena Syndrome
Unilateral renal agenesis, Atrial septal defect OMIM:617190
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Breast hypoplasia, Crypto... ORPHA:464306
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Decreased circulating IgA level, Prolonged prothrombin time, Thr... OMIM:212065
Poems Syndrome
Splenomegaly, Thrombocytosis, Polycythemia, Increased circulating antibody level ORPHA:2905
Incontinentia Pigmenti
Supernumerary nipple, Congestive heart failure, Cerebral ischemia, Eosinophilia, Attention defici... ORPHA:464
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocyto... OMIM:615688
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hypospadias, Unilateral renal agenesis, Enuresis, Aortic valve stenosis,... ORPHA:96121
Mucoepithelial Dysplasia, Hereditary
Cor pulmonale, Corneal neovascularization, Hematuria, Eosinophilia, Melena OMIM:158310
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... OMIM:300280
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Decreased testicular size, Cryptorchidism, Micropenis, Testicular atrophy OMIM:308700
Neurooculorenal Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral rena... OMIM:620305
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis ORPHA:729
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Walker-Warburg Syndrome
Abnormal circulating creatine kinase concentration, Cryptorchidism, Anophthalmia, Microphthalmia,... ORPHA:899
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Atrial septal d... ORPHA:3109
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec... OMIM:618652
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive... OMIM:614096
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Cockayne Syndrome Type 2
Hepatomegaly, Cryptorchidism, Anophthalmia ORPHA:90322
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Tetralogy of Fallot, Hepatosplenomegaly, Atriov... OMIM:274000
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis ORPHA:134
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Familial Thrombocytosis
Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis ORPHA:71493
Cockayne Syndrome
Mental deterioration, Renal hypoplasia, Unilateral renal agenesis, Elevated circulating hepatic t... ORPHA:191
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Pulmonary... OMIM:619064
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Holoprosencephaly
Abnormality of the urinary system, Tetralogy of Fallot, Panhypopituitarism, Abnormality of the sp... ORPHA:2162
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Renal hypoplasia, Multicystic kidney dysplasia, Hypoplasia of the blad... OMIM:614527
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts OMIM:617425
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Proteinuria, Vaginal... ORPHA:2035
Wiskott-Aldrich Syndrome
Nephropathy, Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T ce... OMIM:301000
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Cryptor... ORPHA:564
Sarcoidosis
Abnormal lymph node morphology, Arrhythmia, Hepatomegaly, Tubulointerstitial nephritis, Heart blo... ORPHA:797
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia ORPHA:1064
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulon... ORPHA:99931
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Unilateral renal agenesis, Gastrointestinal hemorrhage, Bilateral re... ORPHA:508488
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia ORPHA:66625
Leopard Syndrome 1
Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bund... OMIM:151100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failur... OMIM:620609
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Renal ins... OMIM:188400
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Tooth abscess, Perianal a... ORPHA:2686
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Unilateral renal agenesis, Abnormal renal collecting system morphology, ... ORPHA:468631
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,... ORPHA:906
Mulibrey Nanism
Congestive heart failure, Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepato... OMIM:253250
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure OMIM:300886
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Unilateral renal agenesis, Aortic regurgitation, Dilatation of the renal p... ORPHA:268261
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Unilateral renal agenesis, Elevated 8(9)-cholestenol, Hydronephrosis, Abnormal cardiac septum mor... OMIM:308050
Anencephaly 2
Anophthalmia OMIM:619452
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Portal hy... ORPHA:465508
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis OMIM:616603
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Impaired platelet aggregation OMIM:614076
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Supernumerary nipple, Decreased response to growth hormone stimulation... OMIM:213980
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Incontinentia Pigmenti
Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, E... OMIM:308300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype... ORPHA:3077
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elevated circulating cre... OMIM:617713
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, At... OMIM:620024
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradycardia,... OMIM:614702
Hydrolethalus
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ... OMIM:232300
Trichohepatoenteric Syndrome 1
Thrombocytosis, Decreased circulating antibody level, Splenomegaly, Increased mean platelet volume OMIM:222470
Cogan Syndrome
Anemia, Leukocytosis, Thrombocytosis ORPHA:1467
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract, Cardiomegaly... ORPHA:391428
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Sandhoff Disease
Progressive psychomotor deterioration, Increased urinary N-acetylglucosamine-rich oligosaccharide... OMIM:268800
Bifid Nose With Or Without Anorectal And Renal Anomalies
Unilateral renal agenesis, Ebstein anomaly of the tricuspid valve, Renal agenesis OMIM:608980
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... OMIM:301074
Syndromic Diarrhea
Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, In... ORPHA:84064
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Total anomalous pulmonary venous return, Abnormal heart morphology, Hy... ORPHA:487796
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardi... OMIM:266500
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Netherton Syndrome
Hypereosinophilia OMIM:256500
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Tricuspid regurgitation, Cryptorchidism, Ventricular septal defect, Tr... ORPHA:261337
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Anophthalmia, Renal cyst, Dysphagia OMIM:615636
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Th... OMIM:619503
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Hyperphosphatemia, Cryptorchidism, Decreased growth hormone responses ... OMIM:101800
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Congestive heart failure, Breast aplasia, Pyelonephr... OMIM:181270
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Hyperprolinemia OMIM:619170
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Microphthalmia With Limb Anomalies
Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Anterior pituitary ... OMIM:206900
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Fibular Hemimelia
Abnormal heart morphology, Anophthalmia, Renal dysplasia, Thrombocytopenia ORPHA:93323
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, ... OMIM:214800
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... OMIM:601005
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormality of the uri... ORPHA:95699
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytopenia, Thrombocytosis ORPHA:94093
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Supernumerary nipple, Hypoplasi... OMIM:619194
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Pulmonary arterial hypertension ORPHA:1164
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Elev... OMIM:618419
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Elevated ci... ORPHA:308552
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgi... ORPHA:2556
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Aniridia, Mitral regurgitation, Cryptorchidism, Anophthalmia, Tricuspid ... ORPHA:1101
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Brucellosis
Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia, ... ORPHA:1304
Vacterl With Hydrocephalus
Renal agenesis, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Microphthalmia ORPHA:3412
Charge Syndrome
Horseshoe kidney, Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Abnormal aortic val... ORPHA:138
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Zttk Syndrome
Aortic regurgitation, Unilateral renal agenesis, Horseshoe kidney, Absent gallbladder, Ventricula... OMIM:617140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H... OMIM:174000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Pancyt... OMIM:227650
Pallister-Hall Syndrome
Hypopituitarism, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia,... ORPHA:672
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Lympha... ORPHA:449563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... OMIM:618278
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi... OMIM:616897
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Abnormal heart morphology, Pancyt... OMIM:600901
14Q22Q23 Microdeletion Syndrome
Renal hypoplasia, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia ORPHA:264200
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Elevated cir... ORPHA:268
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cushing Disease
Depression, Memory impairment, Increased urinary cortisol level, Lymphopenia, Capillary fragility... ORPHA:96253
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Leukemia, Renal agen... OMIM:227646
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Proboscis Lateralis
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Ventricu... ORPHA:141099
Gaucher Disease, Perinatal Lethal
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Anemia, T... OMIM:608013
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Depression, Cardiomyopathy, Congestive heart failure, 3-Methylglutaconic aciduria, Increased hepa... OMIM:619259
Beck-Fahrner Syndrome
Cardiomegaly, Attention deficit hyperactivity disorder, Depression, Ventricular septal defect OMIM:618798
Mucopolysaccharidosis Type 3
Abnormal temper tantrums, Atrioventricular block, Dementia, Heparan sulfate excretion in urine, R... ORPHA:581
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Cardiomyopathy, Confusion, Cardiomegaly, Orthostatic hypotension due to aut... OMIM:105210
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Leukocyte Adhesion Deficiency
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Thrombocytosis, ... ORPHA:2968
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Cryptorchidism ORPHA:2673
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hyperactivity, Optic nerve hypoplasia ORPHA:457284
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... ORPHA:1677
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Horseshoe kidney, Abnormal heart morphology, Transient ischemic attack... ORPHA:500150
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Fraser Syndrome 1
Renal hypoplasia, Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Anophthalm... OMIM:219000
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2250
Hermansky-Pudlak Syndrome 6
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:614075
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... ORPHA:90348
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Anophtha... OMIM:300166
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Unilateral renal agenesis, Ventricular septal defect OMIM:154400
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Horseshoe kidney, Panc... OMIM:227645
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Anophthalmia, Microphthalmia OMIM:615877
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Fucosidosis
Mental deterioration, Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptidur... OMIM:230000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypophosphatemic rickets... OMIM:208000
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Oligosacchariduria, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened... ORPHA:365
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Kawasaki Disease
Leukocytosis, Thrombocytosis ORPHA:2331
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Mgat2-Cdg
Decreased circulating IgG level, Decreased circulating antibody level, Impaired lymphocyte transf... ORPHA:79329
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan... OMIM:620306
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Noonan Syndrome
Abnormality of the spleen, Abnormal platelet function, Juvenile myelomonocytic leukemia ORPHA:648
Ogden Syndrome
Torsade de pointes, Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aorti... OMIM:300855
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Abnormality of end... ORPHA:93111
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto... ORPHA:79330
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca OMIM:615709
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Focal Dermal Hypoplasia
Supernumerary nipple, Horseshoe kidney, Bifid ureter, Aniridia, Cryptorchidism, Anophthalmia, Hyd... OMIM:305600
Holoprosencephaly 9
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... OMIM:610829
Viss Syndrome
Coronary sinus enlargement, Hypereosinophilia, Right ventricular hypertrophy, Mitral valve prolap... OMIM:619472
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Increased serum beta-hexosaminidase, Congestive heart failure, Hypertrophic... OMIM:252500
Cushing Syndrome Due To Ectopic Acth Secretion
Depression, Memory impairment, Abnormal lymph node morphology, Increased urinary cortisol level, ... ORPHA:99889
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ... ORPHA:116
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis, Hypokalem... OMIM:219090
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Corneal ... OMIM:308205
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Emotional lability, Cryptorchidism, Ventricular septal defect, Bicuspid ao... ORPHA:353281
Williams Syndrome
Cryptorchidism, Overfriendliness, Polycystic ovaries, Ventricular septal defect, Bicuspid aortic ... ORPHA:904
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation OMIM:614077
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased hepatic echogenicity, Cutaneous abscess, Eosinophilia, Dysphagia, Recurrent cutaneous a... OMIM:147060
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Doors Syndrome
Thrombocytosis ORPHA:79500
Fraser Syndrome
Abnormality of the urinary system, Cryptorchidism, Anophthalmia, Renal hypoplasia/aplasia, Urethr... ORPHA:2052
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right... ORPHA:3427
Microphthalmia With Limb Anomalies
Horseshoe kidney, True anophthalmia, Cryptorchidism, Microphthalmia ORPHA:1106
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inappropriate laughter, Cardiomegaly, Cryptorchidism OMIM:618143
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Branchiooculofacial Syndrome
Renal agenesis, Supernumerary nipple, Cryptorchidism, Anophthalmia, Renal cyst, Microphthalmia, D... OMIM:113620
Microphthalmia, Syndromic 1
Renal hypoplasia, Hydroureter, Cryptorchidism, Self-mutilation, Renal hypoplasia/aplasia, Anophth... OMIM:309800
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:51
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormally large globe, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aorti... OMIM:245600
Microphthalmia, Syndromic 6
Renal hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Anterior hypopituitarism OMIM:607932
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Acute myelomonocytic leukemia, Secundum atrial septal defect, D-2-hydr... ORPHA:99646
Dermatomyositis
Vasculitis, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentrati... ORPHA:221
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy ORPHA:158687
Generalized Arterial Calcification Of Infancy