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Gene: Rad50 MGI:109292

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
RAD50 double strand break repair protein
Synonyms:
Mrell,  Rad50l

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Rad50 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 Rad50 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Nijmegen Breakage Syndrome-Like Disorder
OMIM:613078

The table below shows human diseases predicted to be associated to Rad50 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia w... ORPHA:318
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ... OMIM:619041
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider... ORPHA:75564
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia OMIM:188000
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myelodysplasia OMIM:614675
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... OMIM:153600
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervica... OMIM:614172
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Diamond-Blackfan Anemia 18
Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus, Neoplasm ORPHA:2807
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... OMIM:235200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... OMIM:616871
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis, Neoplasm of the skin OMIM:142630
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Hepato... OMIM:619924
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Transcobalamin Deficiency
Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... ORPHA:98826
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Gardner Syndrome
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Abnormality of skin pig... ORPHA:79665
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Chromosome 5Q Deletion Syndrome
Megakaryocyte nucleus hypolobulation, Myelodysplasia, Anemia of inadequate production, Refractory... OMIM:153550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Abnormal meta... ORPHA:465508
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Fanconi-Like Syndrome
Pancytopenia, Multiple cutaneous malignancies OMIM:227850
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Hypogonadism, Testicula... OMIM:618165
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Reticulated skin pigmentation, Cirrhosis, Testicular atrophy, Thrombocytopenia OMIM:613987
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma OMIM:247640
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ... OMIM:619151
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Immunodeficiency 24
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i... OMIM:615897
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Immunodeficiency 109 With Lymphoproliferation
Hodgkin lymphoma, Splenomegaly, Pancytopenia, Absent circulating B cells OMIM:620282
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm... OMIM:613011
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Capillary hemangioma ORPHA:2703
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Primary Myelofibrosis
Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Hematological neoplasm,... ORPHA:824
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
N Syndrome
Cryptorchidism, Leukemia, Neoplasm OMIM:310465
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... ORPHA:98850
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess OMIM:604416
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... OMIM:616005
Spermatogenic Failure 17
Male infertility OMIM:617214
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Bone marrow hypocellularity, Myeloid leukemia, Anemia OMIM:614742
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia OMIM:618398
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp... ORPHA:67044
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memory B cells, Lymphade... OMIM:619126
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Testicular at... OMIM:601163
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphoma, Burkitt lymphoma, Lymphocytosis, Hemophago... OMIM:308240
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Mantle Cell Lymphoma
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Failure to thrive, T-cell acute lymphoblastic leukemias, Bone marrow hypo... OMIM:605724
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Bone marrow hypocellularity, Abnormally low T cell receptor excisio... OMIM:619767
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia OMIM:160900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:507
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Bone... ORPHA:101096
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... ORPHA:486
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Hodgkin lymp... OMIM:615122
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Primary Erythromelalgia
Leukemia ORPHA:90026
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
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
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon... OMIM:300835
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor... OMIM:607091
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hemangioma-Thrombocytopenia Syndrome
Hemangioma, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Gray Platelet Syndrome
Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Non-Involuting Congenital Hemangioma
Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera... ORPHA:141179
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma of the tongue OMIM:613988
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... ORPHA:443167
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Central Precocious Puberty In Male
Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Hydroceph... ORPHA:649929
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Hydrocephalus, Gastroesophageal reflux, Talipes equinovarus ORPHA:250994
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Aarskog-Scott Syndrome
Short palm, Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease,... OMIM:305400
Aicardi Syndrome
Intestinal polyposis, Abnormality of retinal pigmentation, Hiatus hernia, Precocious puberty, Mal... ORPHA:50
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Granuloma, Hemophagocytosis, Hepatosplenomegaly OMIM:619858
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Atypical Teratoid Rhabdoid Tumor
Malignant neoplasm of the central nervous system, Hydrocephalus ORPHA:99966
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly OMIM:269840
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Single transverse palmar crease, Wide distal... OMIM:269150
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Megakaryocyte dysplasia, Giant platelets, Macrothrombocytopenia, Neut... OMIM:155100
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Neoplasm, Clinodactyly of the 5th finger, Hepatoblastoma, Dandy-Walker malfo... ORPHA:373
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Nephronophthisis
Anemia ORPHA:655
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Villous atrophy, Gastritis, Lymphopenia, Increased mean p... ORPHA:84064
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Rapidly Involuting Congenital Hemangioma
Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera... ORPHA:141184
Aicardi Syndrome
Proximal placement of thumb, Hiatus hernia, Precocious puberty, Spina bifida, Choroid plexus cyst... OMIM:304050
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... OMIM:601399
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ... ORPHA:397596
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level OMIM:617341
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Schinzel-Giedion Syndrome
Tibial bowing, Hepatoblastoma, Myeloid leukemia, Micropenis, Streak ovary, Hypospadias, Ependymom... ORPHA:798
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Preaxial polydactyly, Hypogonadism, De... ORPHA:141333
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Adreno... OMIM:130650
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:616553
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Malaria
Anemia, Thrombocytopenia ORPHA:673
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Papillary thyroid carcinoma, Short 5th finger, Hepatoblastoma, Clino... ORPHA:1465
Congenital Atransferrinemia
Anemia ORPHA:1195
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... ORPHA:66661
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Platelet Disorder, Undefined
Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm OMIM:173420
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Nephroblastoma, Rhabdomyosarcoma, Polycythemia, Cryptorc... ORPHA:116
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia OMIM:617872
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... ORPHA:86893
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Distal 7Q11.23 Microduplication Syndrome
Benign neoplasm of the central nervous system, Cryptorchidism, Hydrocephalus, Frontal encephalocele ORPHA:261102
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megaloblastic bone marr... OMIM:275350
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hydrocephalus, Azoospermia, Cubitus valgus, Abnormality of the hy... ORPHA:2183
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia OMIM:230800
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Bangstad Syndrome
Pancytopenia OMIM:210740
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Thymoma
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... ORPHA:99867
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Tufted Angioma
Megakaryocytopenia, Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial... ORPHA:1063
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Acute leukemia, Lymphadenopathy ORPHA:99812
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Temple Syndrome
Few cafe-au-lait spots, Decreased response to growth hormone stimulation test, Precocious puberty... ORPHA:254516
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... ORPHA:71493
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, B lymphocytopen... ORPHA:217390
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thromb... ORPHA:520
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Increased circulating gonadotropin... ORPHA:243
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Melanoma, Meningioma, Dandy-Walker malformation OMIM:249400
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus, Osteosarcoma OMIM:260500
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Neural Tube Defects, Susceptibility To
Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spina bifida occulta OMIM:182940
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Single transverse palmar crease, Tibial bowing, Hepatoblastoma, Smal... ORPHA:96334
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Slc35A1-Cdg
Giant platelets, Abnormal megakaryocyte morphology, Neutropenia, Abnormal platelet granules, Thro... ORPHA:238459
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia ORPHA:251009
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... OMIM:613989
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Gorlin Syndrome
Hypogonadotropic hypogonadism, Arachnodactyly, Palmar pits, Cryptorchidism, Hydrocephalus, Melano... ORPHA:377
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Testicular seminoma, Acute leukemia ORPHA:281090
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Granulocytic hyperplasia, Anemia, Impaired oxidative bu... OMIM:226990
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Postaxial hand polydactyly, Pigmentary re... ORPHA:110
Ataxia-Telangiectasia
Failure to thrive, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, T lymphocytopenia, H... OMIM:208900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia ORPHA:37748
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic neutropenia, Aut... OMIM:614700
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Nephroblast... OMIM:194072
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ... ORPHA:543
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... ORPHA:33355
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Myelodysplasia, Pe... OMIM:260400
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Adr... OMIM:609981
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Anemia, Leukopenia, Increased mean corpuscular volume, Squamous ... OMIM:127550
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Satoyoshi Syndrome
Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humerus, Genu varum, Abnormal ... ORPHA:3130
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Increased mean corpuscular volume, Ne... ORPHA:2169
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia OMIM:606593
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hemangiomatosis, Anemia, Visceral angiomatosis ORPHA:2123
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Fanconi Anemia, Complementation Group N
Neuroblastoma, Nephroblastoma, Medulloblastoma, Aplastic anemia OMIM:610832
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa... ORPHA:33226
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Single transverse palmar crease, Adenomatous colonic polyposis, Desmoid tumor... ORPHA:261584
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Fanconi Anemia, Complementation Group P
Pancytopenia, Anemia, Squamous cell carcinoma OMIM:613951
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Thrombocytopenia OMIM:620365
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Melanocytic nevus ORPHA:1008
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... OMIM:618048
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism OMIM:601794
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Simpson-Golabi-Behmel Syndrome, Type 1
Short palm, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorchidism, Polysplenia, Meckel divert... OMIM:312870
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Diencephalic Syndrome
Hydrocephalus, Long penis, Large hands, Neoplasm of the nervous system, Abnormality of the hypoth... ORPHA:1672
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Cryptorchidism, Preaxial han... OMIM:175700
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Cryptorchidism, Reticulocytopenia, Anemia, Bone marrow h... OMIM:227645
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep... ORPHA:8
Kleeblattschaedel
Hydrocephalus OMIM:148800
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Oslam Syndrome
Neoplasm, Anemia, Osteosarcoma OMIM:165660
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocytopenia, Sarcoma ORPHA:69077
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:259700
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Specific Granule Deficiency 2
Absent neutrophil specific granules, Bone marrow maturation arrest, Myelodysplasia, Anemia, Neutr... OMIM:617475
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy, Dysphagia OMIM:300322
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Hydrocephalus OMIM:300886
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Verrucae OMIM:618969
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss, Hepatomegaly ORPHA:79238
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased palmar creases, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, A... ORPHA:2232
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Cryptorchidism, Hydrocephalus, Clinodactyly, Hypoplastic female ext... OMIM:618577
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Bone marrow arrest at the promyelocytic stage, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Basal Cell Nevus Syndrome 2
Angiofibromas, Hydrocephalus, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... OMIM:603553
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:77259
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Noonan Syndrome 12
Glabellar hemangioma, Lymphopenia, Thrombocytopenia OMIM:618624
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Inflammation of... OMIM:232240
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive ORPHA:172
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of the tonsils, Abnormality... ORPHA:229717
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Galactosemia Iii
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly OMIM:230350
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... ORPHA:3243
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asci... ORPHA:858
Mirage Syndrome
Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Achalasia, Hypospadias, My... OMIM:617053
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia ORPHA:79312
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Cryptorchidism, Patchy hypo- and hyperpigmentation, Slende... ORPHA:3063
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Hydrocephalus, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Steinert Myotonic Dystrophy
Brain neoplasm, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation t... ORPHA:273
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Kagami-Ogata Syndrome
Hepatoblastoma, Coxa valga, Dysphagia ORPHA:254519
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Meckel Syndrome, Type 3
Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, B... OMIM:607361
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopa... ORPHA:39041
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia ORPHA:75233
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... OMIM:224120
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:848
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, F... ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iil
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:614576
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly OMIM:620210
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... ORPHA:906
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Thrombocytopenia OMIM:616937
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Myeloid leukemia, Neuroendocrine neoplasm, Obesity ORPHA:404443
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:613224
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Myelodysplasia, Erythro... ORPHA:124
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Leukemia, Supernumerary nipple, Myelodysplasia OMIM:619951
Triploidy
Hepatomegaly, Hypoplasia of penis, Finger syndactyly, Hypospadias, Intestinal malrotation, Crypto... ORPHA:3376
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Temple Syndrome
Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Hydrocephalus, Small ha... OMIM:616222
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Cryptorchidism, Annular pancreas, Reticulocytopenia, Ane... OMIM:227646
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Oculocerebrocutaneous Syndrome
Finger syndactyly, Ventriculomegaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Cryp... ORPHA:1647
Hemangioblastoma
Hydrocephalus, Spinal hemangioblastoma, Hemangioblastoma, Cerebellar hemangioblastoma, Retinal ca... ORPHA:252054
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... ORPHA:125
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Anemia, Neutropenia OMIM:604250
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Myelodysplasia, Cholangitis, Thrombocyto... ORPHA:3260
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol... OMIM:611926
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Anemia OMIM:607426
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Braddock-Carey Syndrome 2
Megakaryocytopenia, Thrombocytopenia OMIM:619981
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Myelodysplasia, Cryptorchidism, Squamous cell carcino... ORPHA:221008
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... OMIM:259720
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... ORPHA:391
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Cryptorchidism, Hydrocephalus, Radioulnar ... ORPHA:171839
Rothmund-Thomson Syndrome
Aplastic anemia, Small for gestational age, Myelodysplasia, Squamous cell carcinoma, Basal cell c... ORPHA:2909
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Anemia ORPHA:28
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly ORPHA:309288
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad... OMIM:257200
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:3162
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology, Abnormali... ORPHA:2075
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Anemia OMIM:620331
Blue Rubber Bleb Nevus
Iron deficiency anemia, Hemangioma, Thrombocytopenia, Cerebellar medulloblastoma OMIM:112200
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Single transverse palmar cr... ORPHA:199310
H Syndrome
Hallux valgus, Histiocytosis, Diabetes mellitus, Malabsorption, Microcytic anemia, Hydrocephalus,... ORPHA:168569
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous ce... ORPHA:221016
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Female infertility, Asplenia, Hydrocephalus, Clubbing, ... ORPHA:244
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Myopathy, Centronuclear, X-Linked
Elevated hepatic transaminase, Arachnodactyly, Cryptorchidism, Pyloric stenosis, Hydrocephalus, S... OMIM:310400
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Cholesteryl Ester Storage Disease
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thro... OMIM:278000
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... ORPHA:911
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepat... OMIM:619111
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocellu... ORPHA:47612
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Abnormality of the elbow, Brachydactyly ORPHA:2701
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Lymphoproliferative disorder, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leuko... OMIM:615688
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Failure to thrive, Hepatomegaly OMIM:228000
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Fair hair, Hypopigmentation of... OMIM:269920
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia ORPHA:85321
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Nephronophthisis 18
Hydrocephalus, Portal fibrosis, Cholestasis OMIM:615862
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Livedoid Vasculopathy
Leukocytosis, Pancytopenia, Polycythemia, Anemia ORPHA:542643
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Ventriculomegaly OMIM:218350
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexi... ORPHA:647
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Squamous cell carci... OMIM:210900
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... ORPHA:2330
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:42642
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Granuloma ORPHA:1855
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb... OMIM:616433
Neurofibromatosis Type 1
Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Neoplasm of the gastrointestinal tract... ORPHA:636
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus, Thrombocytopenia ORPHA:1237
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Leukocytosis, Hydrocephalus, Genu valgum, Hypoplasia of the ovary, Genera... OMIM:619321
Bresek Syndrome
Aganglionic megacolon, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Decreased testi... ORPHA:85284
Encephalocraniocutaneous Lipomatosis
Linear hyperpigmentation, Astrocytoma, Cryptorchidism, Hydrocephalus, Lipoma, Dandy-Walker malfor... OMIM:613001
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Acrodysostosis 1 With Or Without Hormone Resistance
Short palm, Short metacarpal, Brachydactyly, Cryptorchidism, Hydrocephalus, Elevated circulating ... OMIM:101800
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Failure to thrive, Hepatic steatosis, Anemia OMIM:615438
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Glioma, Micromelia, Postaxial hand polydactyly, Hydrocep... OMIM:241800
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodg... OMIM:305000
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypergonadotropic hypogonadism, Aplastic anemia, Absent thumb, Esophageal atres... OMIM:300514
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cryptorchidism, Small for gestational age, Anemia, Cardiomegaly OMIM:620135
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Megakaryocyte dysplasia, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymph... ORPHA:508542
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Neoplasm, Bone marrow hypocellularity, Thrombocytopenia ORPHA:3322
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Fanconi Anemia
Abnormal femur morphology, Abnormality of skin pigmentation, Leukopenia, Abnormality of the liver... ORPHA:84
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla... ORPHA:2969
Down Syndrome
Abnormality of the lymphatic system, Obesity, Acute megakaryocytic leukemia ORPHA:870
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Fried Syndrome
Hydrocephalus ORPHA:85335
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... ORPHA:1572
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... ORPHA:3261
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count OMIM:242860
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Cirr... ORPHA:905
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Cryptorchidism, Embryonal rhabdomyosarcoma, Leukemia, Nephroblastoma OMIM:257300
Optic Pathway Glioma
Precocious puberty, Hydrocephalus, Neurofibroma ORPHA:2086
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Aase-Smith Syndrome I
Hydrocephalus, Congenital neuroblastoma, Dandy-Walker malformation OMIM:147800
Griscelli Syndrome
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Silver-gray hair, Splenomegaly, White ha... ORPHA:381
Immunodeficiency 91 And Hyperinflammation
Megakaryocytopenia, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytop... OMIM:619644
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Splenomegaly, Pancytopenia OMIM:613385
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Palmoplantar cutis gyrata, Cryptorchidism, Abnormality of the pancreas, Visceral a... ORPHA:1555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Pontocerebellar Hypoplasia, Type 7
Single transverse palmar crease, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, ... OMIM:614969
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytop... OMIM:617591
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Mccune-Albright Syndrome
Abnormal femur morphology, Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperth... ORPHA:562
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Spinal dysraphism, Micropenis, Abnorm... ORPHA:1926
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Preeclampsia
Thrombocytopenia ORPHA:275555
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... ORPHA:228426
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Vexas Syndrome
Megakaryocyte dysplasia, Macrocytic anemia, Myelodysplasia, Thrombocytopenia OMIM:301054
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Orthostatic Hypotension 2
Anemia OMIM:618182
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hydrocephalus, Decreased response to growth hormone stimulation test, Ventriculom... OMIM:609757
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Endocrine-Cerebroosteodysplasia
Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micromelia, Preaxial polydact... OMIM:612651
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Gaucher Disease Type 3
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia ORPHA:77261
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Seckel Syndrome 1
Pancytopenia OMIM:210600
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Simple Cryoglobulinemia
Viral hepatitis, B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Mono... ORPHA:91139
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... OMIM:267700
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia OMIM:231005
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Anemia ORPHA:169105
Leopard Syndrome 1
Scapular winging, Hypospadias, Limited elbow movement, Cryptorchidism, Spina bifida occulta, Micr... OMIM:151100
Hydrolethalus
Micromelia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Abnormal fall... ORPHA:2189
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Hydrocephalus, Tracheoesoph... ORPHA:77298
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Weight l... ORPHA:90362
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Rectal... ORPHA:235
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... ORPHA:3464
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Splenomegaly, Cryptorchidism, Hepatosplenomegaly, Failure to th... OMIM:613563
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Weight loss, Ascites, Anemia ORPHA:2070
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia OMIM:618321
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Generalized hyperpigmentation, Malabsorption, Splenome... ORPHA:3452
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Small for gestational age, Microcytic anemia, T lymphocytopenia, Neopla... ORPHA:2959
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Lymphopenia OMIM:605309
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Cryptococcosis
Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, Cirrhosis ORPHA:1546
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... ORPHA:1359
Trisomy 1Q
Toe syndactyly, Small scrotum, Arachnodactyly, Camptodactyly of finger, Cryptorchidism, Preaxial ... ORPHA:261344
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Failure to thrive, La... OMIM:617388
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele ORPHA:1528
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly ORPHA:2182
Sengers Syndrome
Thrombocytopenia OMIM:212350
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularity, Thrombocytopenia ORPHA:2785
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Cryptorchidism, Hydrocephalus, Small hand, Short foot, Hypogonadism, Gastroesophageal reflux, Mic... ORPHA:500055
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Abnormality of the gastrointestinal tract, Primary testicular fai... ORPHA:85450
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Fluctuating splenomegaly, Fluctuatin... OMIM:610377
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly OMIM:304100
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Drumstick terminal phalanges, Dandy-Walker malformation, Brachydac... OMIM:612938
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia OMIM:615758
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytos... OMIM:615934
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ... ORPHA:391487
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Neurofibromatosis, Type I
Inguinal freckling, Astrocytoma, Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Axillary fr... OMIM:162200
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Neoplasm, Thrombocytopenia ORPHA:169090
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Acquired Purpura Fulminans
Neoplasm, Thrombocytopenia ORPHA:49566
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... OMIM:300755
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Noonan Syndrome 2
Cryptorchidism, Leukemia OMIM:605275
Focal Facial Dermal Dysplasia Type Iv
Hemangioma, Hydrocephalus ORPHA:398189
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Abnormal bone marrow cell morphology, Anemia, Bone m... ORPHA:699
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Anemia ORPHA:2668
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Abnormality of multiple cell lineages in the bone marrow, Hemophagocytosis,... ORPHA:540
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul... OMIM:616034
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Hydrocephalus, Irregular menstruation, Femoral bowing, Tibial bowing, Uterine leiomyo... OMIM:616482
Distal Triplication 15Q
Arachnodactyly, Abnormal external genitalia, Hydrocephalus, Hydrocele testis, Camptodactyly, Neph... ORPHA:314588
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Abdominal s... OMIM:614874
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Hydrocephalus, Ovarian neoplasm, Trichilemmoma, Neoplasm of the thyro... ORPHA:65285
Emanuel Syndrome
Ventriculomegaly, Cryptorchidism, Hydrocephalus, Hypogonadism, Infertility, Gastroesophageal refl... ORPHA:96170
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Postaxial hand polydact... OMIM:612284
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Cholestasis, Cone-shaped e... OMIM:615630
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl... ORPHA:370348
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi... OMIM:243700
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Visceral angiomatosis, Hydrocephalus, N... ORPHA:60040
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Macronodular cir... OMIM:620005
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus did... OMIM:618820
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Martin-Probst Syndrome
Pancytopenia OMIM:300519
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:615846
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Hydrocephalus OMIM:307000
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, El... ORPHA:300298
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Bile duct proliferation, Dandy-Walker mal... OMIM:611134
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Revesz Syndrome
Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, Dermatoglyphic ridges abnormal, Inflammation of the large intestin... ORPHA:99413
Mosaic Monosomy X
Gastrointestinal inflammation, Dermatoglyphic ridges abnormal, Inflammation of the large intestin... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, Dermatoglyphic ridges abnormal, Inflammation of the large intestin... ORPHA:99226
Turner Syndrome
Gastrointestinal inflammation, Dermatoglyphic ridges abnormal, Inflammation of the large intestin... ORPHA:881
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Copper Deficiency, Familial Benign
Failure to thrive, Anemia OMIM:121270
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep... OMIM:619381
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuro... OMIM:256700
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Hec Syndrome
Communicating hydrocephalus, Vaginal hydrocele ORPHA:2119
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Decreased proportion of nai... ORPHA:1830
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased response to growth hormone stimulation tes... ORPHA:293978
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... ORPHA:98870
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Sandal gap, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Abnormal fi... ORPHA:1812
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci... ORPHA:77293
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hydrocephalus OMIM:618174
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... ORPHA:93932
Lowry-Maclean Syndrome
Hypospadias, Single transverse palmar crease, Bilateral cryptorchidism, Abnormality of the abdomi... ORPHA:2409
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia OMIM:608104
Ellis Van Creveld Syndrome
Cryptorchidism, Failure to thrive, Acute leukemia ORPHA:289
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ... ORPHA:53271
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Pseudotrisomy 13 Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, 2-3... OMIM:264480
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Hypospadias OMIM:601499
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Rhombencephalosynapsis
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophageal fi... ORPHA:59315
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Tracheoesophageal fistula, Abnormali... ORPHA:1834
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
L1 Syndrome
Aqueductal stenosis, Hydrocephalus ORPHA:275543
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Micromelia, Bowing of the legs, Cryptorchidism, Hydrocephalus, Clubbing of fingers... ORPHA:1865
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive OMIM:235555
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Anemia OMIM:170100
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom... ORPHA:163979
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Meckel Syndrome
Accessory spleen, Encephalocele, Bowing of the long bones, True hermaphroditism, Pancreatic fibro... ORPHA:564
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Generalized hyperpigmentation, Abnormal morphology of ... ORPHA:1340
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Glioma, Rhabdomyosarcoma, Medulloblastoma, Lymphoma, T lymphocytopen... OMIM:251260
Emanuel Syndrome
Ventriculomegaly, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Gastroesophageal reflux,... OMIM:609029
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Small scrotum, Overlapping toe, Hydrocephalus, Micropenis, Cutaneous syndactyly... OMIM:617822
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Trisomy 8P
Short fourth metatarsal, Single transverse palmar crease, Aplasia/Hypoplasia of the gallbladder, ... ORPHA:264450
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Hydatidiform Mole
Anemia ORPHA:99927
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Dextrocardia
Meckel diverticulum, Intestinal malrotation, Abnormal reproductive system morphology, Abnormality... ORPHA:1666
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly OMIM:612852
Malt Lymphoma
B-cell lymphoma, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia ORPHA:52417
Dubowitz Syndrome
Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma OMIM:223370
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Carney Triad
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre... ORPHA:139411
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Nephr... ORPHA:1052
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc... ORPHA:99947
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Cryp... ORPHA:2166
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Metatarsus valgus, Dandy-Wa... ORPHA:899
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Brachydactyly, Hypospadias, Intestinal malrotation, Adren... ORPHA:7
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b... OMIM:613776
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Cholestasis, ... OMIM:300972
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Papillary ... OMIM:180849
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:2072
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Spina bifida, Palmar pits, Hydr... OMIM:109400
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Hypothyroidism, Dandy-W... ORPHA:79332
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia, Osteosarcoma OMIM:620072
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi... OMIM:220210
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Tapered finger, Hydrocephalus, Hydrocele testis, Talipes equinovarus, Vent... OMIM:613603
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Single transverse palmar crease, Ovotestis, Hydrocephalus, Hypoplasia of the uterus,... OMIM:309801
Pelvis-Shoulder Dysplasia
Syndactyly, Hydranencephaly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, M... ORPHA:2839
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of skin pigmentation, Hydrocephalus, Sandal gap, Brachydactyly ORPHA:2180
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Metaphyseal dysplasia, Proximal placement of thumb, Hydrocephalus, Coxa vara, Genu valgum, Talipe... OMIM:613330
Vacterl With Hydrocephalus
Spina bifida, Aqueductal stenosis, Cryptorchidism, Esophageal atresia, Hypoplasia of the radius, ... ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... ORPHA:54595
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Hydrocephalus, Abnormality of the male genitalia, Cholelithiasis, ... OMIM:614886
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Crouzon Syndrome
Hydrocephalus, Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Ach... OMIM:613812
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Failure to thrive, Anemia OMIM:239200
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Hydrocephalus, Abnormal fallopian tube morphology, Abnormality of the... ORPHA:722
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Lymphoma ORPHA:2526
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Chronic Thromboembolic Pulmonary Hypertension
Neoplasm, Myeloproliferative disorder, Obesity ORPHA:70591
Mend Syndrome
Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, Hydrocephalus, Spotty hypopigmentati... ORPHA:401973
Aicardi-Goutières Syndrome
Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepa... ORPHA:51
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia OMIM:617303
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... OMIM:249000
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukopenia, Bone m... OMIM:603467
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... OMIM:260920
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Mend Syndrome
Broad hallux, Overlapping toe, Cryptorchidism, Long fingers, Hydrocephalus, Spotty hypopigmentati... OMIM:300960
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr... OMIM:222700
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Encephalocele, Portal hypertension... ORPHA:974
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia ORPHA:67
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot, Hand polydactyly... ORPHA:250989
Alexander Disease Type I
Hydrocephalus ORPHA:363717
Vici Syndrome
Failure to thrive, Left ventricular hypertrophy, Leukopenia, T lymphocytopenia, Abnormal thymus m... OMIM:242840
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Hydrocephalus, Vaginal atresia ORPHA:3301
Krabbe Disease
Hydrocephalus, Increased CSF protein concentration OMIM:245200
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly ORPHA:309282
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... ORPHA:1106
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Gaucher Disease
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia ORPHA:355
Apert Syndrome
Syndactyly, Finger syndactyly, Limited elbow movement, Pyloric stenosis, Cryptorchidism, Esophage... OMIM:101200
Oeis Complex
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus OMIM:613155
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Pyloric stenosis, Hydrocephalus, Clitoral hypoplasia, Holoprosenceph... OMIM:147791
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Monosomy 18Q
Astrocytoma, Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Bilateral cryptorch... ORPHA:1600
Edinburgh Malformation Syndrome
Brushfield spots, Long fingers, Hydrocephalus, Ulnar deviation of finger, Slender finger ORPHA:1895
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Bowing of the legs, Splenomegaly, Shor... OMIM:269860
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... OMIM:301074
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Communicating hydrocephalus, Asplenia OMIM:244400
Opitz-Kaveggia Syndrome
Syndactyly, Hypospadias, Single transverse palmar crease, Intestinal malrotation, Broad hallux, C... OMIM:305450
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus OMIM:276950
Chime Syndrome
Acute leukemia ORPHA:3474
Gracile Bone Dysplasia
Asplenia, Hydrocephalus, Flared metaphysis, Hypoplastic spleen, Micropenis, Brachydactyly OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, L... OMIM:613154
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Hydrocephalus, Clinodactyly of the 5th finger, Abnormal meta... ORPHA:2635
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Palmar pits, Hydrocephalus... ORPHA:77301
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:609942
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Bone marrow maturation arrest, Thrombocytopenia, Neutropenia OMIM:616271
Hemochromatosis, Type 5
Anemia OMIM:615517
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Coccidioidomycosis
Abnormal sperm morphology, Eosinophilia, Abnormality of the endocrine system, Abnormality of the ... ORPHA:228123
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... ORPHA:2968
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Abnormality of neutrophils, Hydrocephalus, White hair, Ocular albinism, Hypochrom... ORPHA:2720
Desmosterolosis
Rhizomelia, Hydrocephalus, Ambiguous genitalia, female, Gingival fibromatosis, Ambiguous genitali... OMIM:602398
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Finger syndactyly, Hypospadias, External genital hypoplasia, Epispadia... ORPHA:2658
Alg9-Cdg
Hepatomegaly, Villous atrophy, Ulnar deviation of the hand, Rhizomelia, Flared metaphysis, Peripo... ORPHA:79328
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus OMIM:300558
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Large for gestational age, Acute lymphoblastic leukemia, Hydrocele testis, Hypoplas... OMIM:280000
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopath... ORPHA:50918
Degcags Syndrome
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... OMIM:619488
Cousin Syndrome
Hydranencephaly, Rhizomelia, 4-5 toe syndactyly, Ambiguous genitalia, female, Humeroradial synost... OMIM:260660
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Hypospadias, Abnormal tibia morphology, Split hand, Hydrocepha... ORPHA:1335
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hydrocephalus, Genu valgum, Abnormal metacarpal morphology, Abnorm... ORPHA:53
Down Syndrome
Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Rectal atresia, Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral... OMIM:207410
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Renal neoplasm, Retinal hamartoma, Renal angiomyolipoma, Hydrocephal... ORPHA:538
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Bilate... OMIM:614083
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Facial capillary hemangioma, Proximal placement of thum... OMIM:270400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Anemia OMIM:613658
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:99827
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Diamond-Blackfan Anemia 1
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... OMIM:105650
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Cholesteatoma, Giant platelets, Anemia OMIM:611209
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,... ORPHA:508533
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly ORPHA:1908
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Absent circulating ... OMIM:307200
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Abdominal situs inversus OMIM:619607
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Metatarsus adductus, Cryptorchidism, Metaphyseal widening, Hydrocephalus, Genu va... OMIM:182212
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Medulloblastoma
Elevated hepatic transaminase, Hydrocephalus, Medulloblastoma, Spinal cord tumor, Neoplasm of the... ORPHA:616
Poland Syndrome
Retinal hamartoma, Cryptorchidism, Acute leukemia, Abnormality of the liver, Neoplasm of the breast ORPHA:2911
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Tetrasomy 5P
Pericallosal lipoma, Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Depigmentation/h... ORPHA:3309
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Cockayne Syndrome A
Hepatomegaly, Cryptorchidism, Retinal pigment epithelial mottling, Splenomegaly, Irregular menstr... OMIM:216400
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Failure to thrive, Anemia OMIM:616457
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Portal hypertension, Congen... ORPHA:1454
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Decreased response to growth hormone stimulation test, Calcaneovalgus deform... ORPHA:363958
Thanatophoric Dysplasia
Micromelia, Hydrocephalus, Abnormal metaphysis morphology, Ventriculomegaly, Brachydactyly ORPHA:2655
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Esophageal atresi... ORPHA:87
Exstrophy-Epispadias Complex
Bifid scrotum, Abnormality of the gastrointestinal tract, Spina bifida, Bifid uterus, Epispadias,... ORPHA:322
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Papilloma, Thrombocytopenia ORPHA:464329
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Hyperpigmentation of... ORPHA:2556
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Small for gestational age, Hypersplenism, Thrombocytop... ORPHA:1304
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Abnormal megakar... ORPHA:274
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... ORPHA:221120
Lysosomal Acid Lipase Deficiency
Failure to thrive, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic steato... ORPHA:275761
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Hydrocephalus, Deviation of the 5th finger, Ventriculomegaly OMIM:616362
7Q11.23 Microduplication Syndrome
Hypospadias, Single transverse palmar crease, Cryptorchidism, Long fingers, Hydrocephalus, Aplasi... ORPHA:96121
Adams-Oliver Syndrome 2
Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala... OMIM:614219
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:616355
Amelocerebrohypohidrotic Syndrome
Hydrocephalus ORPHA:1946
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... ORPHA:83617
Focal Dermal Hypoplasia
Linear hyperpigmentation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot oligod... OMIM:305600
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Intestinal malrotation, Short ... OMIM:620305
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Intestinal malrotation, Micromelia, Postaxial pol... OMIM:617866
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Brachydactyly, Cryptorchidism, Abnormality... ORPHA:2162
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly OMIM:272200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly OMIM:109120
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Hamartoma of tongue, Micromelia, Hydrocephalus, Preaxial polydactyly, Anen... OMIM:616546
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Marshall-Smith Syndrome
Hallux valgus, Ventriculomegaly, Bullet-shaped middle phalanges of the hand, Bilateral cryptorchi... OMIM:602535
Lateral Meningocele Syndrome
Cryptorchidism, Hydrocephalus, Meningocele OMIM:130720
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Trisomy 17P
Clinodactyly of the 5th finger, Hypoplasia of penis, Hydrocephalus, Tapered finger ORPHA:261290
Glutaric Acidemia I
Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:370959
Noonan Syndrome 1
Male infertility, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypospadias... OMIM:163950
Arachnoiditis
Hydrocephalus ORPHA:137817
Full Nf2-Related Schwannomatosis
Astrocytoma, Glioma, Bilateral vestibular schwannoma, Retinal hamartoma, Myelopathy, Hydrocephalu... ORPHA:637
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Coxa valga, Hydrocephalus, Hammertoe, Colpocephaly, Gastroesophageal reflux, Ventriculomegaly OMIM:619833
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Squamous cell carcinoma, Leukopeni... ORPHA:79277
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Melanoma, Numerous pigmented freckles, Squamous cell carcinoma of the skin, Basal ... ORPHA:220295
Desmosterolosis
Intestinal malrotation, Micromelia, Metatarsus adductus, Splenomegaly, Hydrocephalus, Ambiguous g... ORPHA:35107
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Alport Syndrome 1, X-Linked
Diffuse leiomyomatosis, Thrombocytopenia OMIM:301050
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Crouzon Syndrome
Hydrocephalus, Dysgerminoma OMIM:123500
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Avascular necrosis... OMIM:619377
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Broad hallux phalanx, Hepatomegaly, Splenomegaly, Hydrocepha... ORPHA:585
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:225750
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Triphalangeal thumb,... OMIM:107480
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... ORPHA:31150
Alexander Disease
Diabetes mellitus, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Dysphagia, Hyperpigmen... ORPHA:58
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Meningoencephalocele, Cryptorchidism, Hydrocephalus, H... OMIM:236670
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Pancytopenia OMIM:181000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Gaucher Disease, Perinatal Lethal
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:608013
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E... ORPHA:2462
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Lymphoma, N... ORPHA:1775
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Overlapping toe, Hydrocephalus, Hypoplastic labia majora, Palmoplanta... OMIM:123790
Oxoglutaric Aciduria
Hydrocephalus ORPHA:31
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... OMIM:300863
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Pilomatrixoma, Jaundice, Biliary atresia, Small hand, Hydroce... ORPHA:3310
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Hydrocephalus, Pigmentary retinopathy, Short 2nd toe, Clinodactyly... OMIM:612582
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal... OMIM:615287
Otopalatodigital Syndrome Type 2
Encephalocele, Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodact... ORPHA:90652
Aymé-Gripp Syndrome
Rocker bottom foot, Tapered finger, Cryptorchidism, Hydrocephalus, Radioulnar synostosis, Reduced... ORPHA:1272
22Q11.2 Deletion Syndrome
Anorectal anomaly, Hypoplasia of the thymus, Abnormality of the uterus, Gastroesophageal reflux, ... ORPHA:567
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Juvenile Polyposis Syndrome
Duodenal adenocarcinoma, Failure to thrive, Anemia OMIM:174900
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:612199
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Anemia ORPHA:3042
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Hypopituitarism, Hypothyr... ORPHA:90065
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Kabuki Syndrome 1
Hemolytic anemia, Intestinal malrotation, Premature thelarche, Malabsorption, Autoimmune thromboc... OMIM:147920
Orofaciodigital Syndrome I
Syndactyly, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst,... OMIM:311200
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Aganglionic megacolon, Broad hall... OMIM:154400
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Gastroesophageal reflux, Accessory spleen, Hypospadias, Pseudoep... OMIM:194190
Roberts-Sc Phocomelia Syndrome
Midface capillary hemangioma, Wrist flexion contracture, Accessory spleen, Syndactyly, Hypoplasia... OMIM:268300
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hydrocephalus, Split hand, Femoral bowing, Abn... ORPHA:1860
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Microsporidiosis
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Peritonitis, Bili... ORPHA:2552
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Hajdu-Cheney Syndrome
Hypospadias, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Foot acroosteolysis, Osteolyt... OMIM:102500
Shigellosis
Abscess, Leukocytosis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia ORPHA:810
Alg12-Cdg
Cryptorchidism, Failure to thrive, B lymphocytopenia, Thrombocytopenia ORPHA:79324
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta... OMIM:608091
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Precocious puberty, Cryptorchidism, Hydrocephalus, Small hand, ... ORPHA:2322
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Lujo Hemorrhagic Fever
Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia ORPHA:319213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Splenomegaly, Hydrocephalus, Cavernous hemangioma, Deep ... OMIM:115150
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, H... OMIM:309900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Hydrocephalus, Metaphyseal cupping of metac... ORPHA:163966
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing,... OMIM:618188
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia OMIM:613471
Cystinosis, Nephropathic
Male infertility, Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Oral-pharyngeal dysp... OMIM:219800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Aqueductal stenosis, Cryptorchidism, Long fingers, Hydrocephalus, Bilateral talipes equinovarus, ... OMIM:619512
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno... OMIM:616914
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils ORPHA:36426
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Abscess, Increased circulating myelocyte count, Thromb... ORPHA:36234
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia ORPHA:505248
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Split Cord Malformation
Hypospadias, Cervical spina bifida, Talipes cavus equinovarus, Myelomeningocele, Lipomyelomeningo... ORPHA:573278
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus OMIM:620157
Intellectual Developmental Disorder, Autosomal Dominant 65
Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodac... OMIM:619320
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Sacral lipoma OMIM:600145
Hurler Syndrome
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Hydrocephalus, Abnormality of the elbow, Abn... ORPHA:93473
Pettigrew Syndrome
Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor... ORPHA:3472
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Achondroplasia
Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hydrocephalus, Short middle pha... ORPHA:15
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hepato... OMIM:219700
Joubert Syndrome With Oculorenal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Foot polydactyly, Abnormal... ORPHA:2318
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Cockayne Syndrome B
Hepatomegaly, Cryptorchidism, Splenomegaly, Ivory epiphyses of the phalanges of the hand, Abnorma... OMIM:133540
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Dandy-Walker malformation OMIM:614424
Congenital Sialidosis Type 2
Hepatomegaly, Hydrocephalus, Polydactyly, Hepatosplenomegaly ORPHA:93400
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus ORPHA:1861
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Thrombocytopenia ORPHA:781
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Femoral bowing, Gastroesophage... OMIM:210710
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Hypospadias,... OMIM:219000
Joubert Syndrome
Encephalocele, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Foot polydactyly, Abnormal... ORPHA:475
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Micromelia, Metaphyseal widening, Hydrocephalus, Advance... OMIM:224400
Mohr Syndrome
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... OMIM:252100
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Hydroceph... OMIM:618162
Joubert Syndrome With Renal Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Abnormality of the hypotha... ORPHA:220497
Joubert Syndrome With Ocular Defect
Encephalocele, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Foot polydactyly, Abnormal... ORPHA:220493
Insulin-Resistance Syndrome Type B
Lymphoma, Hodgkin lymphoma, Leukopenia, Multiple myeloma, Thrombocytopenia ORPHA:2298
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Tapered finger, Hydrocephalus, Flared meta... OMIM:616007
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation, Bilateral single transverse ... ORPHA:459061
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Short toe, Hydrocephalus, Cutaneous syndactyly OMIM:617667
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus... OMIM:605627
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Fanconi Anemia, Complementation Group R
Hydrocephalus, Radial dysplasia, Anemia, Absent thumb OMIM:617244
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Primary Sjögren Syndrome
Normocytic anemia, Lymphoproliferative disorder, Lymphoma, Leukopenia, Normochromic anemia, Decre... ORPHA:289390
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Porphyria, Congenital Erythropoietic
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:263700
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... ORPHA:314585
Chronic Graft Versus Host Disease
Pancytopenia ORPHA:99921
Caroli Syndrome
Liver abscess, Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tra... OMIM:314390
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Postaxial polydactyly, Hydrocephalus, Aplasia of the vagina, Aplasia of the uterus,... ORPHA:457284
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Tapered finger, Short toe, Hydrocephalus, Delayed ossification of carpal b... OMIM:239300
Fetal Akinesia Deformation Sequence 1
Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Cryptorchidism, Hydroce... OMIM:208150
Otopalatodigital Syndrome, Type Ii
Short metatarsal, Femoral bowing, Tibial bowing, Short metacarpal, Radial bowing, Broad hallux, H... OMIM:304120
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Hydrocephalus, Flared metaphysis, Femoral bowing, Metaphyseal irregularity OMIM:187600
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Camptodactyly of finger, Tapered finger, Cryptorchidism, Hydrocephalus, Camptodac... ORPHA:261337
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Neoplasm, Holoprosencephaly ORPHA:2356
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Broad distal phalanges of all fingers, M... OMIM:245600
Hurler Syndrome
Hepatomegaly, Hypoplasia of the femoral head, Coxa valga, Splenomegaly, Metaphyseal widening, Hyd... OMIM:607014
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Metatarsus adductus, Splenomegaly, Hydrocephalus, Genu valgum, Talipes equinovarus,... OMIM:253220
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... OMIM:100800
Tenorio Syndrome
Hydrocephalus, Gastroesophageal reflux, Hypoinsulinemia, Ventriculomegaly OMIM:616260
Chromosome 6Q24-Q25 Deletion Syndrome
Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads OMIM:612863
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uterus ORPHA:2736
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hydrocephalus, Hepatic calcification, Hepatic failure, Hepatic steatosis, Ventricul... ORPHA:228308
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Hepatic steatosis, Elevated hepatic transaminase, Hypospadias, Single transverse p... OMIM:619475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus OMIM:615249
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:618476
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Inguinal freckling, Axillary freckling, Schwannoma, Abnormal tibia morphology, Ossifying fibroma,... ORPHA:363700
Peters-Plus Syndrome
Hypoplasia of the vagina, Bilobate gallbladder, Single transverse palmar crease, Limited elbow mo... OMIM:261540
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cavernous hemangioma of the face, Cavernous hemangioma, Acute myelomonocytic leukemia, Multiple e... ORPHA:99646
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Gastroesophageal reflux, Hydrocephalus OMIM:612940
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Campomelic Dysplasia
Anterior tibial bowing, Patellar hypoplasia, Femoral bowing, Sex reversal, Tibial bowing, Shorten... OMIM:114290
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation OMIM:617281
Hajdu-Cheney Syndrome
Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Intestinal malrot... ORPHA:955
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Hydrocephalus, Hepatic failure, Hepatic calcification ORPHA:157
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Peho Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2836
Wilson Disease
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Anemia OMIM:277900
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus OMIM:613686
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Lysinuric Protein Intolerance
Bone marrow hypercellularity, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocy... ORPHA:470
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Marden-Walker Syndrome
Abnormal penis morphology, Arachnodactyly, Hypospadias, Camptodactyly of finger, Metatarsus adduc... ORPHA:2461
Peters Plus Syndrome
Intestinal fistula, Toe syndactyly, Hypospadias, Rhizomelia, Micromelia, Cryptorchidism, Short to... ORPHA:709
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Hydrocephalus, Adrenal gla... OMIM:273395
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Acute lymphoblas... ORPHA:821
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Facial capillary hemangioma, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytop... OMIM:274000
Sturge-Weber Syndrome
Visceral angiomatosis, Hydrocephalus, Capillary hemangioma, Dysphagia, Heterochromia iridis ORPHA:3205
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Midface capillary hemangioma, Spina bifida occulta, ... OMIM:218600
Fontaine Progeroid Syndrome
Syndactyly, Small scrotum, Absent nipple, Cryptorchidism, Hydrocephalus, Hypoplastic labia majora... OMIM:612289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Renal neoplasm, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, ... ORPHA:536467
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Femur fracture, Splenomegaly, Hydrocephalus, Lateral ventricle dilatation, Anemia OMIM:612301
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Stomatoc... ORPHA:168577
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules ORPHA:25
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Abnormal number of granulocy... ORPHA:99826
Cerebral Visual Impairment
Hydrocephalus ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Holoprosencephaly OMIM:253800
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Brain abscess, Thrombocytopenia ORPHA:544482
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the... ORPHA:2369
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Hypospadias, Cryptorchidism, Long fingers, Long penis, Hydr... OMIM:264090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:614643
Dural Sinus Malformation
Myelopathy, Hydrocephalus ORPHA:97339
Histiocytoid Cardiomyopathy
Hepatomegaly, Hydrocephalus, Polycystic ovaries ORPHA:137675
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Anteri... OMIM:619841
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventricle dilatation, Normal pr... ORPHA:300570
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Congenital Myopathy 22A, Classic
Scapular winging, Normal pressure hydrocephalus, Congenital finger flexion contractures OMIM:620351
Thakker-Donnai Syndrome
Communicating hydrocephalus, Rectovaginal fistula, Tracheoesophageal fistula ORPHA:1780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly OMIM:613150
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Anemia ORPHA:340
Costello Syndrome
Hyperextensibility of the finger joints, Ventriculomegaly, Rhabdomyosarcoma, Limited elbow moveme... OMIM:218040
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Hyperthyroidism, Hypogonadotropic hypogonadism, Hypospadias, Decreased r... ORPHA:3455
Mucopolysaccharidosis Type 3
Hepatomegaly, Malabsorption, Avascular necrosis of the capital femoral epiphysis, Splenomegaly, H... ORPHA:581
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Splenomegaly, Metaphyseal widening, Split hand, Hydrocephalus, Genu valgum, Cervica... OMIM:253200
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Camptodactyly of finger, Metatarsus adductus, Cryptorch... OMIM:607872
Mucopolysaccharidosis Type 1
Malabsorption, Splenomegaly, Hydrocephalus, Split hand, Abnormal metaphysis morphology ORPHA:579
Thoracoabdominal Syndrome
Anencephaly, Hydrocephalus, Hypospadias OMIM:313850
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Intestinal malrotation, Hydrocephalus, Osteopathia striata, Spina bifida occulta,... OMIM:300373
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Hypospadias, Celiac disease, Cryptorchidism, Short thumb, Slender ... OMIM:619325
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus OMIM:618590
Rabin-Pappas Syndrome
Hydrocephalus OMIM:620155
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Hydrocephalus, Preaxial polydactyly, D... OMIM:243605
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Hydrocephalus, Absent nipple OMIM:104350
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hydrocephalus, Ventriculomegaly ORPHA:395
Capillary Malformation-Arteriovenous Malformation
Hemangioma, Hydrocephalus, Facial capillary hemangioma ORPHA:137667
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia OMIM:619525
Jacobsen Syndrome
Bone marrow hypocellularity, Thrombocytopenia ORPHA:2308
Roberts Syndrome
Midface capillary hemangioma, Thrombocytopenia ORPHA:3103
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Thrombocytopenia, Odontogenic neoplasm, Neoplasm o... ORPHA:534
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Biliary atresia, Ab... OMIM:306955
Osteogenesis Imperfecta
Intestinal obstruction, Bowing of the long bones, Rhizomelia, Ventriculomegaly, Micromelia, Visce... ORPHA:666
Ogden Syndrome
Iron deficiency anemia, Polycythemia, Thrombocytopenia OMIM:300855
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Raine Syndrome
Bowing of the long bones, Micromelia, Hydrocephalus, Long hallux, Brachydactyly OMIM:259775
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Aqueductal stenosis, Hepatic fibrosis, Gastroesophageal reflux, In... OMIM:619534
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Foot polydactyly, Tracheoesophageal fistula, Short palm ORPHA:268249
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Splenomegaly, Hydrocephalus, Abnormal metaphysis morpholo... ORPHA:667
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Thrombocytopenia, Microcytic anemia OMIM:256040
Isotretinoin-Like Syndrome
Hydrocephalus, Lymphopenia, Gastroesophageal reflux ORPHA:2306
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Micropenis, Arachnodactyly, Ventriculomegaly ORPHA:457359
Liver Disease, Severe Congenital
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Cholesteatoma, Anemia OMIM:619991
Hardikar Syndrome
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly OMIM:301068
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Digeorge Syndrome
Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Anemia OMIM:188400
Glycogen Storage Disease Of Heart, Lethal Congenital
Hydrocephalus OMIM:261740
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly OMIM:617011
Leptospirosis
Thrombocytopenia ORPHA:509
Mucopolysaccharidosis Type 2
Splenomegaly, Abnormality of retinal pigmentation, Communicating hydrocephalus, Hepatomegaly ORPHA:580
Loeys-Dietz Syndrome 1
Arachnodactyly, Eosinophilic infiltration of the esophagus, Postaxial hand polydactyly, Hydroceph... OMIM:609192
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Eosinophilic infiltration of the esophagus, Postaxial polydactyly, Hy... OMIM:610168
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly OMIM:253280
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Hydrocephalus OMIM:175780
Craniofacial Microsomia 1
Occipital encephalocele, Partial duplication of thumb phalanx, Hydrocephalus, Genu valgum OMIM:164210
Nijmegen Breakage Syndrome-Like Disorder
OMIM:613078

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 Rad50

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 Rad50.

No publications found that use IMPC mice or data for Rad50.

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MGI Allele Allele Type Produced
Rad50tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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