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Gene: Asxl1 MGI:2684063

Gene Summary

Name:

ASXL transcriptional regulator 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular hemoglobin	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.18×10^-13
decreased sacral vertebrae number	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.77×10^-08
impaired pupillary reflex	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.89×10^-06
decreased hemoglobin content	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.67×10^-10
increased blood uric acid level	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.28×10^-05
decreased circulating glucose level	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	1.20×10^-05
decreased mean corpuscular volume	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.75×10^-07
decreased circulating iron level	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	4.86×10^-05
abnormal cornea morphology	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.59×10^-06
decreased hematocrit	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.82×10^-05
corneal opacity	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.83×10^-05
increased lumbar vertebrae number	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.54×10^-08
hyperactivity	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.03×10^-05
vertebral fusion	Asxl1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.98×10^-06

Download data as: TSV XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (4 of 4)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	50% (2 of 4)
Bone	N/A	heterozygote	75% (3 of 4)
Brain	N/A	heterozygote	100% (4 of 4)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 4)
Cartilage tissue	N/A	heterozygote	100% (4 of 4)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	100% (4 of 4)
Gall bladder	N/A	heterozygote	50% (2 of 4)
Heart	N/A	heterozygote	100% (4 of 4)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (4 of 4)
Large intestine	N/A	heterozygote	100% (4 of 4)
Liver	N/A	heterozygote	75% (3 of 4)
Lower urinary tract	N/A	heterozygote	75% (3 of 4)
Lung	N/A	heterozygote	100% (4 of 4)
Lymph node	N/A	heterozygote	100% (4 of 4)
Mammary gland	N/A	heterozygote	25% (1 of 4)
Esophagus	N/A	heterozygote	100% (4 of 4)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (2 of 4)
Oviduct	N/A	heterozygote	50% (2 of 4)
Pancreas	N/A	heterozygote	75% (3 of 4)
Parathyroid gland	N/A	heterozygote	75% (3 of 4)
Peripheral nervous system	N/A	heterozygote	100% (4 of 4)
Peyer's patch	N/A	heterozygote	100% (4 of 4)
Pituitary gland	N/A	heterozygote	25% (1 of 4)
Prostate gland	N/A	heterozygote	50% (2 of 4)
Skeletal muscle tissue	N/A	heterozygote	100% (4 of 4)
Skin	N/A	heterozygote	100% (4 of 4)
Small intestine	N/A	heterozygote	100% (4 of 4)
Spinal cord	N/A	heterozygote	100% (4 of 4)
Spleen	N/A	heterozygote	75% (3 of 4)
Stomach	N/A	heterozygote	100% (4 of 4)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (2 of 4)
Thymus	N/A	heterozygote	100% (4 of 4)
Thyroid gland	N/A	heterozygote	75% (3 of 4)
Trachea	N/A	heterozygote	100% (4 of 4)
Uterus	N/A	heterozygote	50% (2 of 4)
White adipose tissue	N/A	heterozygote	25% (1 of 4)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

16 Images

View images

Legacy Phenotype Associated Images

Asxl1^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

Asxl1^{tm1a(EUCOMM)Wtsi}
head, HET, Female, WTSI

Asxl1^{tm1a(EUCOMM)Wtsi}
body, HET, Female, WTSI

View all 143 images

Asxl1^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, cornea/lens fusion, HET, Male, WTSI

Asxl1^{tm1a(EUCOMM)Wtsi}
corneal opacity, HET, Male, WTSI

Asxl1^{tm1a(EUCOMM)Wtsi}
eye, corneal opacity, HET, Female, WTSI

Asxl1^{tm1a(EUCOMM)Wtsi}
corneal vascularization, corneal opacity, cornea/lens fusion, eye, HET, Female, WTSI

Asxl1^{tm1a(EUCOMM)Wtsi}
eye, persistence of hyaloid vascular system, HET, Male, WTSI

View all 7 images

Asxl1^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Asxl1 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.

Human diseases associated with Asxl1 (5 diseases)
Human diseases predicted to be associated with Asxl1 (2186 diseases)

The table below shows human diseases associated to Asxl1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Myelodysplastic Syndrome	Myelodysplasia	OMIM:614286
Bohring-Opitz Syndrome	Bilateral cleft palate, Sacral dimple, Intestinal malrotation, Cleft upper lip, Micrognathia, Nar...	OMIM:605039
Bohring-Opitz Syndrome	Micrognathia, Cleft lip, Cleft palate, Retrognathia, Prominent palatine ridges	ORPHA:97297

The table below shows human diseases predicted to be associated to Asxl1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM...	OMIM:153600
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Microphthalmia,...	OMIM:615524
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product...	ORPHA:98826
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 15B	Death in infancy, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Failure ...	OMIM:615592
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder	OMIM:131440
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat...	OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft	OMIM:611638
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Galactosialidosis	Cherry red spot of the macula, Abnormality of the vertebral column, Corneal opacity, Abnormal ver...	ORPHA:351
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Abnormality of the vertebral column, Bilateral cleft lip and palate	OMIM:600776
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem...	ORPHA:486
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu...	OMIM:619523
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,...	OMIM:619824
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg...	OMIM:619644
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea...	ORPHA:3319
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Myeloid leukemia	OMIM:614743
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr...	OMIM:617514
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Anencephaly 2	Anophthalmia, Median cleft palate, Median cleft lip, Cleft maxillary alveolar ridge	OMIM:619452
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc...	OMIM:619151
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Neoplasm of the central nervous system, Anemia, Neoplasm of the ...	ORPHA:69077
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi...	ORPHA:296
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma	OMIM:247640
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts	OMIM:182170
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu...	OMIM:614742
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Lesch-Nyhan Syndrome	Hyperuricemia, Gout, Anemia	ORPHA:510
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib...	OMIM:301082
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat...	OMIM:616005
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Mmep Syndrome	Mandibular prognathia, Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3434
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Verrucae, Decreased circulating antibody level	OMIM:193670
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Abnormal natural killer c...	OMIM:613101
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Primary Erythromelalgia	Leukemia, Abnormality of thrombocytes	ORPHA:90026
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Essential Thrombocythemia	Abnormality of thrombocytes, Myelodysplasia, Splenomegaly, Abnormal platelet morphology, Acute le...	ORPHA:3318
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:172880
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
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias	OMIM:619096
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Winchester Syndrome	Arthropathy, Corneal opacity, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Gen...	OMIM:277950
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Anemia, Ectopia lentis	OMIM:238700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology, Squamous cell carcinoma	ORPHA:542592
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity, Delayed skeletal maturation, Scoliosis, Chorioretinal degeneration	OMIM:616311
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:158061
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Pierre Robin Syndrome	Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia	OMIM:261800
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Micrognathia, Short neck, Cleft palate, Abnormal vertebral morphology	ORPHA:2015
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, Anemia, Ascites, ...	ORPHA:2123
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Cleft palate, Micrognathia	OMIM:616570
Non-Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141179
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair...	OMIM:601399
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Retrognathia, High palate, Narrow mouth	ORPHA:2528
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth...	OMIM:601216
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,...	OMIM:613845
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le...	ORPHA:37748
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia	OMIM:261750
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec...	OMIM:260400
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Rapidly Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141184
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate, Micrognathia	ORPHA:718
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce...	OMIM:601349
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Anemia	OMIM:613092
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Acute leukemia, Lymphadenopathy	ORPHA:99812
Distal 16P11.2 Microdeletion Syndrome	Retinal dystrophy, Kyphosis, Hyperuricemia, Attention deficit hyperactivity disorder, Rod-cone dy...	ORPHA:261222
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:600251
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia	OMIM:246470
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Hydrolethalus	Anophthalmia, Micrognathia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral...	ORPHA:2189
Anophthalmia Plus Syndrome	Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Vertebral segm...	ORPHA:1104
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Multiple small vertebral fractures, Osteoporosis of vertebrae, Platysp...	OMIM:156510
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Morquio Syndrome C	Platyspondyly, Corneal opacity	OMIM:252300
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s...	ORPHA:47
Lesch-Nyhan Phenotype With Normal Hgprt	Choreoathetosis, Hyperuricemia, Self-mutilation	OMIM:308950
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Meckel Syndrome, Type 8	Anophthalmia, Short neck, Cleft upper lip, Cleft palate, Microphthalmia	OMIM:613885
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperammonemia, Hypoglycemia, Hyperuricemia, Anemia	OMIM:246450
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno...	OMIM:304790
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, ...	ORPHA:540
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Cleft palate, ...	ORPHA:3104
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur...	ORPHA:33355
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity	OMIM:605724
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Optic atrop...	ORPHA:313892
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Splenomegaly, Anemia, Redu...	OMIM:616050
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Decreased circulating antibody level...	ORPHA:397596
Gombo Syndrome	Microphthalmia	OMIM:233270
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent tonsilliti...	ORPHA:2686
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin...	OMIM:613702
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm...	ORPHA:331206
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Lesch-Nyhan Syndrome	Dystonia, Megaloblastic anemia, Hip dislocation, Opisthotonus, Choreoathetosis, Self-injurious be...	OMIM:300322
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa...	ORPHA:33226
Thymoma	Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi...	ORPHA:99867
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cleft palate	OMIM:164180
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Maxillonasal Dysplasia	Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Vertebral clefting, Cleft palate, To...	ORPHA:1248
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Short neck, Central posterior corneal opacit...	OMIM:244600
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk...	ORPHA:292
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Hodgkin lymphoma, Neutropenia, Lymphop...	OMIM:614868
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Propionic Acidemia	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Stillbirth...	ORPHA:85212
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia	OMIM:619981
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic neutropenia, Gen...	OMIM:614700
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:120433
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoarthritis, Osteoporosis, Hyperuricemia, Hypercholesterolemia, Action tremor	ORPHA:77296
Classic Mycosis Fungoides	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:2584
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Stuve-Wiedemann Syndrome 2	Neonatal death, Stillbirth, Thrombocytopenia, Death in adolescence	OMIM:619751
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:614727
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris, A...	ORPHA:290
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoglycemia, Eosinophilia, Anorexia, Hyperca...	ORPHA:199299
Mucolipidosis Type Iii	Corneal opacity, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies, Reduced b...	ORPHA:577
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Kyphosi...	OMIM:239000
Nephronophthisis	Anemia	ORPHA:655
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Juvenile Paget Disease	Abnormality of retinal pigmentation, Recurrent fractures, Optic atrophy, Osteoporosis, Hyperuricemia	ORPHA:2801
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Corneal opacity, Abnormal form of the vertebral bodies, Reduced bone mineral density	ORPHA:2370
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Accelerat...	OMIM:203800
Beta-Ketothiolase Deficiency	Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Agitation, Oral aversion, Hyperuricemia, Th...	ORPHA:134
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag...	ORPHA:2791
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Storage Pool Platelet Disease	Myelodysplasia, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Th...	OMIM:620365
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, High, narrow palate, Kyphosis, Clef...	ORPHA:3378
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Anemia, Leukopenia, Increased circulating I...	OMIM:617303
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia	ORPHA:281090
Hemangioma-Thrombocytopenia Syndrome	Hemangioma, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia	ORPHA:543
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Tufted Angioma	Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hemangioma	ORPHA:1063
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane...	ORPHA:1667
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM...	OMIM:619752
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol...	OMIM:611926
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increase...	ORPHA:3261
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Noonan Syndrome 12	Glabellar hemangioma, Lymphopenia, Thrombocytopenia	OMIM:618624
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating total IgM, Decreased c...	OMIM:620210
Parc Syndrome	Microretrognathia, Cleft palate	OMIM:600331
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:167
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
2Q24 Microdeletion Syndrome	Short neck, Cleft palate, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia	ORPHA:1617
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Cerebrooculonasal Syndrome	Anophthalmia, High palate, Widely spaced teeth, Solitary median maxillary central incisor, Long p...	ORPHA:66625
Hemochromatosis, Type 4	Cataract, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentra...	OMIM:606069
Nemaline Myopathy 9	Scoliosis, High palate, Cleft palate, Micrognathia	OMIM:615731
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Hyperactivity, Cataract, Congenital bilateral hip dislocation	ORPHA:85288
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu...	ORPHA:2169
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Kyphosis, Widely spaced p...	ORPHA:90322
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Anemia	OMIM:610090
Familial Isolated Dilated Cardiomyopathy	Abnormality of neutrophils	ORPHA:154
Alpha-Mannosidosis	Cataract, Corneal opacity, Short neck, Splenomegaly, Delayed skeletal maturation, Kyphosis, Arthr...	ORPHA:61
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Patent ductus arteriosus, Anemia, Neutropenia, ...	OMIM:277380
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Everted lower lip vermilion, Thick vermilion border, Shor...	ORPHA:411986
Kniest Dysplasia	Arthropathy, Enlarged joints, Rhegmatogenous retinal detachment, Short neck, Delayed epiphyseal o...	ORPHA:485
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepat...	OMIM:606003
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thromboc...	ORPHA:91547
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow h...	ORPHA:508542
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia...	OMIM:102700
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor...	OMIM:606612
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcin...	ORPHA:217390
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Stillbirth	OMIM:152800
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Sialidosis Type 2	Corneal opacity, Tremor, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Abnormal macu...	ORPHA:87876
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Microphthalmia With Limb Anomalies	Sacral dimple, Anophthalmia, Cleft upper lip, Deep philtrum, Cleft palate, High palate, Microphth...	OMIM:206920
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel...	OMIM:608233
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Ins...	ORPHA:79083
Autosomal Agammaglobulinemia	Agammaglobulinemia, Verrucae, Hepatitis, Neutropenia	ORPHA:33110
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Agammaglobulinemia 6, Autosomal Recessive	B lymphocytopenia, Abnormal T cell morphology	OMIM:612692
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia	OMIM:618398
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Fib...	OMIM:619750
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus...	ORPHA:182050
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop...	ORPHA:293173
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, Neutropenia...	ORPHA:90051
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Supernumerary ribs, Scoliosis, Butter...	OMIM:122600
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal...	ORPHA:79303
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Short neck, Thin vermilion border, Widely spaced teeth...	ORPHA:487825
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Hurler-Scheie Syndrome	Corneal opacity, Splenomegaly, Limitation of joint mobility, Spinal canal stenosis, Abnormal vert...	ORPHA:93476
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Abdominal adhesions, Neoplasm of the skin, Neutropenia, Lymphopenia	OMIM:616395
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
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer...	OMIM:609981
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Leukopenia, Recurrent hypoglycem...	ORPHA:20
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Short neck, Orofacial cleft, Wide mouth, Long philtrum, Microphthalmia,...	OMIM:614583
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo...	OMIM:209920
Preeclampsia	Increased body mass index, Small for gestational age, Abnormality of the hepatic vasculature, Thr...	ORPHA:275555
Nanophthalmos	Microphthalmia	ORPHA:35612
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Mesomelic Limb Shortening And Bowing	Retrognathia, Cleft palate, Micrognathia	OMIM:249710
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph...	ORPHA:39041
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Boutonneuse Fever	Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased c...	ORPHA:83313
Ataxia-Telangiectasia	Lymphopenia, Decreased circulating IgG2 level, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic le...	OMIM:208900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Thoracic scoliosis, Lumbar scoliosis, Micrognathia	OMIM:616171
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Myeloproliferative disorder	ORPHA:100924
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden...	OMIM:240500
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Necrotizing Enterocolitis	Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular...	OMIM:127550
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora...	ORPHA:1436
Matthew-Wood Syndrome	Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann...	ORPHA:2470
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia	OMIM:606593
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L...	ORPHA:3162
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangit...	ORPHA:3260
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto...	ORPHA:1959
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level, Myelodysplasia	ORPHA:48104
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma	ORPHA:2023
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma	ORPHA:44890
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Fanconi Anemia, Complementation Group D2	Pancytopenia, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow ...	OMIM:227646
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Platelet Disorder, Undefined	Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm	OMIM:173420
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, ...	OMIM:603553
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Patent ductus arteriosus, Cholestasis, Anemia, Neonatal death, Fa...	OMIM:608104
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Reticulocyto...	ORPHA:124
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Esophageal atresia, Hemivertebrae, Tracheoesophageal fistula, Microphthalmia, Abnor...	ORPHA:77298
Cofs Syndrome	Microphthalmia, Micrognathia, Everted lower lip vermilion, Short neck	ORPHA:1466
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Hypo...	ORPHA:94093
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Impaired T cell function, Thrombocytopenia, D...	ORPHA:1830
Microphthalmia, Syndromic 13	Microphthalmia, Kyphoscoliosis, Widely-spaced incisors	OMIM:300915
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth	OMIM:246560
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Hodgkin lymphoma, Incre...	OMIM:615816
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Immunodeficiency 55	Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia	OMIM:617827
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemi...	ORPHA:95409
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased cir...	OMIM:617591
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Gorlin Syndrome	Vertebral fusion, Cataract, Hemivertebrae, Vertebral wedging, Scoliosis, Iris coloboma	ORPHA:377
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost...	OMIM:178110
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Fused cervical vertebrae, Glucose intolerance, Scoliosis, Thoracic hemiv...	OMIM:309620
Focal Facial Dermal Dysplasia Type Iv	Hemangioma, Abnormal mast cell morphology	ORPHA:398189
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ...	ORPHA:906
Mirage Syndrome	Patent ductus arteriosus, Anemia, Leukopenia, Decreased body weight, Hypoplastic spleen, Lymphope...	OMIM:617053
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Neutropenia, Microcytic anemia	OMIM:251900
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Aarskog-Scott Syndrome	Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Attention deficit h...	ORPHA:915
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Micrognathia, Malar prominence, Kyphosis, Scoliosis, Microphthalmia, Abnormality of the cervical ...	ORPHA:48431
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased...	OMIM:300755
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia...	OMIM:170100
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor...	OMIM:152950
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Gm1-Gangliosidosis, Type Iii	Dystonia, Kyphosis, Hypoplastic acetabulae, Platyspondyly, Scoliosis, Opacification of the cornea...	OMIM:230650
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone ossification, Abn...	ORPHA:93315
Addison Disease	Normocytic anemia, Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Thiamine-re...	ORPHA:85138
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Lens subluxation, Short neck	ORPHA:3456
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr...	ORPHA:263501
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo...	ORPHA:169105
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Pierpont Syndrome	Smooth philtrum, Short neck, Prominent median palatal raphe, Thin vermilion border, Widely spaced...	OMIM:602342
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Platyspondyly, Short philtrum, Microphthalmia	ORPHA:93267
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Dystonia, Self-mutilation	ORPHA:79233
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Platyspondyly, Long philtrum, Abnormal vertebral epiphys...	ORPHA:90653
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Hemangioma, Thrombocytopenia, Cerebellar medull...	OMIM:112200
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Aspergillosis	Eosinophilia, Hematological neoplasm, Increased circulating IgE level, Hepatitis, Neutropenia	ORPHA:1163
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Decreased circulating antibody lev...	OMIM:242900
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join...	OMIM:113000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Ovoid vertebral bodies, Short neck, Micrognathia, Cleft palate, Downturned corners of mouth, Plat...	ORPHA:163649
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Rothmund-Thomson Syndrome	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas...	ORPHA:2909
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia o...	OMIM:610829
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas...	ORPHA:221008
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia, Death in childhood	OMIM:615597
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum...	OMIM:277900
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
17Q12 Microduplication Syndrome	Microphthalmia, Abnormal vertebral morphology, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Atelosteogenesis, Type Iii	Cervical segmentation defect, Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxi...	OMIM:108721
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia, Gout	OMIM:162000
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati...	OMIM:610377
Fusariosis	Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Peritonitis, Abno...	ORPHA:228119
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As...	OMIM:614034
Dengue Fever	Leukopenia, Ascites, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Kyphoscoliosis, Hyperlordosis, Carious teeth, Micrognat...	OMIM:618363
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology	ORPHA:2522
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Hemivertebrae, Tracheoesop...	ORPHA:3412
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Tooth agenesis, Microphthalmia, High palate, Cleft palate	ORPHA:1135
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Scheie Syndrome	Corneal opacity, Short neck, Genu valgum, Retinal degeneration, Spondylolisthesis	OMIM:607016
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Sialidosis Type 1	Cataract, Corneal opacity, Tremor, Splenomegaly, Delayed skeletal maturation, Kyphosis, Abnormal ...	ORPHA:812
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T...	ORPHA:2332
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt...	ORPHA:3322
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ...	ORPHA:2345
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, A...	ORPHA:276
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis	OMIM:300676
Microphthalmia, Syndromic 9	Anophthalmia, Patent ductus arteriosus, Bilateral microphthalmos, Multilobulated spleen, Neonatal...	OMIM:601186
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:3222
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Basal cell carcinoma, Melanom...	ORPHA:221016
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Bone marrow hypocellularity, Infection associated neutropenia, Neu...	ORPHA:445038
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Neutropenia, Lipem...	OMIM:232220
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Bloom Syndrome	Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Decreased circulating total IgM, Leuk...	OMIM:210900
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Neutropenia, Megaloblastic anemia	ORPHA:79284
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia	OMIM:616271
Immunodeficiency, Common Variable, 6	Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n...	OMIM:613496
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate	OMIM:610125
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79405
Lamb-Shaffer Syndrome	Hyperactivity, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis, Abnormal te...	ORPHA:530983
Hereditary Fructose Intolerance	Cataract, Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, High, narrow palate, Scoliosis, L...	ORPHA:1101
Tatton-Brown-Rahman Syndrome	Patent ductus arteriosus, Myeloid leukemia, Neuroendocrine neoplasm	ORPHA:404443
Cockayne Syndrome	Congenital contracture, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Inten...	ORPHA:191
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly...	OMIM:614576
Fetal Alcohol Syndrome	Thin upper lip vermilion, Micrognathia, Non-midline cleft lip, Cleft palate, Vertebral segmentati...	ORPHA:1915
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hyperuricemia, Elevated circulating creatinine concentration, Gout, Anemia	OMIM:174000
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Temtamy Syndrome	Microphthalmia, Thick lower lip vermilion, Abnormal palate morphology, Micrognathia	ORPHA:1777
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ...	ORPHA:50918
Split-Foot Deformity With Mandibulofacial Dysostosis	Malar flattening, Cleft palate, Micrognathia	OMIM:183700
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Micrognathia...	OMIM:256050
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Elbow dislocation, Limitation of joint mobility, Radiou...	ORPHA:2741
Mitochondrial Complex I Deficiency, Nuclear Type 33	Neutropenia	OMIM:618253
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Corneal arcus, N...	OMIM:245900
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Monosomy 18P	Kyphoscoliosis, Short neck, Carious teeth, Micrognathia, Cleft palate, Downturned corners of mout...	ORPHA:1598
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T...	ORPHA:760
Seckel Syndrome 2	Microdontia, Microphthalmia, Microglossia, Micrognathia	OMIM:606744
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Ankle swelling, Wrist swelling, Osteolysis involving tarsal bones, M...	OMIM:166300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly	OMIM:613561
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2250
Monosomy 22	Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo...	ORPHA:96123
Gracile Bone Dysplasia	Death in infancy, Asplenia, Aniridia, Microphthalmia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Diaphanospondylodysostosis	Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ...	ORPHA:66637
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia	OMIM:619951
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod...	OMIM:618961
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif...	ORPHA:2521
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Warburg Micro Syndrome 1	Kyphoscoliosis, Micrognathia, Thin vermilion border, Narrow mouth, Microphthalmia	OMIM:600118
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration	OMIM:252650
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t...	ORPHA:90045
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Fasting hypoglycemia, Lipemia re...	OMIM:232200
Harel-Yoon Syndrome	Corneal opacity, Optic atrophy, Developmental cataract, Scoliosis, Dystonia	OMIM:617183
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Congenital Factor Xiii Deficiency	Myeloid leukemia, Hepatic failure	ORPHA:331
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati...	ORPHA:169160
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodg...	OMIM:305000
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Ascites, Decreased circulating IgE, D...	OMIM:615758
Verheij Syndrome	Joint laxity, Vertebral fusion, Optic nerve hypoplasia, Short neck, Hemivertebrae, Hip dislocatio...	OMIM:615583
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Late-Onset Junctional Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79406
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Myelodysplastic Syndrome	Myelodysplasia	OMIM:614286
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity	ORPHA:391
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Subaortic Stenosis-Short Stature Syndrome	Short neck, Micrognathia, Kyphosis, Scoliosis, Microdontia, Microphthalmia	ORPHA:3191
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic failure, Hepatic steatosis	OMIM:617872
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Papilloma, C...	ORPHA:51636
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Widely-spaced maxillary...	OMIM:136760
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep...	OMIM:618805
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De...	OMIM:251290
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac...	OMIM:607155
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Retinal detachment, Corneal opacity, Osteoporosis, Abnormal vitreous hu...	ORPHA:2788
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Proteus Syndrome	Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma	OMIM:176920
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
3Q29 Microdeletion Syndrome	Cataract, Aggressive behavior, Joint hyperflexibility, Attention deficit hyperactivity disorder, ...	ORPHA:65286
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Short neck, Micrognathia, Thin vermilion border, Long philtrum, Microphtha...	ORPHA:1438
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellularity, Microphthalmia, Failur...	OMIM:603467
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis...	ORPHA:79259
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra...	ORPHA:125
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, High palate	ORPHA:139471
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Trisomy 1Q	Microretrognathia, Anophthalmia, Cleft palate, Narrow mouth, Anal atresia	ORPHA:261344
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Aceruloplasminemia	Torticollis, Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentratio...	OMIM:604290
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu v...	OMIM:252605
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hemivertebrae, Cleft palate, Scoliosis, Neonatal d...	ORPHA:85284
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase...	ORPHA:2769
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Self-Improving Dystrophic Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79411
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Microphthalmia, Smooth philtrum	OMIM:614526
Cockayne Syndrome Type 1	Anophthalmia, Hepatomegaly, Failure to thrive, Anemia	ORPHA:90321
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Acquired Purpura Fulminans	Neoplasm, Hepatic failure, Thrombocytopenia	ORPHA:49566
Bartsocas-Papas Syndrome 2	Microphthalmia, Micrognathia, Accessory oral frenulum, Bilateral cleft lip and palate	OMIM:619339
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Cronkhite-Canada Syndrome	Hepatomegaly, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia	ORPHA:2930
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:312150
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Morm Syndrome	Hyperactivity, Cataract, Retinal dystrophy, Retinal atrophy, Aggressive behavior	ORPHA:75858
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition	ORPHA:2776
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Kyphosis, Deep philtrum, Cleft pa...	ORPHA:404440
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Nance-Horan Syndrome	Mandibular prognathia, Microphthalmia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia, Narrow mouth	ORPHA:3469
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Cystinosis	Corneal opacity, Rickets, Hypokalemia, Type I diabetes mellitus, Hypophosphatemia, Retinopathy, P...	ORPHA:213
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck	OMIM:214300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Orofacial cleft	ORPHA:324416
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microdontia, Microphthalmia, Widely spaced teeth, Micrognathia	OMIM:619694
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume	OMIM:300048
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Lujan-Fryns Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, High pala...	ORPHA:776
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody ...	ORPHA:100
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Hyperphenylalaninem...	OMIM:261600
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq...	OMIM:620141
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Optic atrophy, Abnormal form of the vertebral bodies, Hepatosplenomega...	ORPHA:93399
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Linear Verrucous Nevus Syndrome	Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, H...	ORPHA:2611
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis	ORPHA:1445
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, B-cell lymphoma, Monoclonal immunoglobu...	ORPHA:91139
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Narrow palate, Cleft palate, Downturned corners of mouth, H...	OMIM:605627
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ...	ORPHA:699
Waardenburg Syndrome, Type 1	Blue irides, Hypoplastic iris stroma, Supernumerary ribs, Supernumerary vertebrae, Heterochromia ...	OMIM:193500
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodi...	ORPHA:2916
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont...	OMIM:253290
Gaucher Disease, Type Ii	Hepatomegaly, Death in infancy, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:230900
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Abnormal intervertebral disk morphology, Short neck, Platyspondyl...	ORPHA:85194
Hyperuricemia, Hprt-Related	Podagra, Hyperuricemia	OMIM:300323
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Pfapa Syndrome	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Ascites, Thrombocytopenia	OMIM:617397
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopath...	OMIM:615934
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Flexion contracture, Corneal opacity, Developmental cataract	OMIM:618815
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Joint hemorrhage, Hyperuricemia	ORPHA:35909
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Abnormality of retinal pigmentation, Cataract, Block vertebrae, Tarsal synostos...	OMIM:272460
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Infantile Myofibromatosis	Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Gingival fibromatosis, N...	ORPHA:2591
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary ribs, Joint hypermobility, Six lumbar vertebrae	OMIM:619122
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Micrognathia, Duodenal stenosis	ORPHA:2547
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthalmos, Anal atresia	OMIM:619318
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hypomagnesemia 3, Renal	Polydipsia, Astigmatism, Hyperuricemia, Hypomagnesemia	OMIM:248250
Koolen-De Vries Syndrome	Vertebral fusion, Cataract, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral segmenta...	ORPHA:96169
Walker-Warburg Syndrome	Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Bifid uvula	ORPHA:899
Gm1 Gangliosidosis	Generalized dystonia, Corneal opacity, Camptodactyly of finger, Dystonia, Joint stiffness, Hyperl...	ORPHA:354
Lethal Ataxia With Deafness And Optic Atrophy	Abnormal erythrocyte enzyme level, Optic atrophy, Hypouricemia	ORPHA:1187
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Rickets, Glycosuria, Hypophosphatemia	OMIM:616026
Diamond-Blackfan Anemia 1	Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ...	OMIM:105650
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy...	OMIM:620005
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ...	ORPHA:391487
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Zika Virus Disease	Increased circulating IgM level, Miscarriage, Optic disc hypoplasia, Thrombocytopenia	ORPHA:448237
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Erythrokeratodermia Variabilis	Diabetes mellitus, Cataract, Corneal opacity	ORPHA:317
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra...	OMIM:613686
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Wide mouth, Platyspondyly, Short philtrum, Microphthalmia	ORPHA:163966
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Hartsfield Syndrome	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:2117
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia...	ORPHA:228426
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Lumbar hyperlordosis, Pica, Astigmatism, Lumbar scoliosis, Cervical C2/C3 vertebra...	OMIM:617796
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr...	ORPHA:411634
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Pancreatitis, Thromboc...	ORPHA:537
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Hemochromatosis, Type 2A	Splenomegaly, Cirrhosis, Hepatomegaly	OMIM:602390
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Decreased body weight, Neonatal death, Th...	OMIM:608013
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Weigh...	ORPHA:160
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Vexas Syndrome	Macrocytic anemia, Myelodysplasia, Thrombocytopenia	OMIM:301054
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody...	ORPHA:90362
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly	OMIM:615637
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor...	OMIM:619927
Dyggve-Melchior-Clausen Disease	Hyperactivity, Corneal opacity, Short neck, Hypoplasia of the odontoid process, Abnormality of th...	ORPHA:239
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia, Gout	ORPHA:411543
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:616651
Alg8-Cdg	Thrombocytopenia, Failure to thrive, Small for gestational age, Anemia	ORPHA:79325
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Short neck, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mout...	OMIM:618571
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Mal...	ORPHA:93262
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Cryptococcosis	Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, Cirrhosis	ORPHA:1546
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Elevated circulating creatine kinase concentration, Craniosynostosis, Optic nerv...	OMIM:301056
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Hyperuricemia	ORPHA:411536
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Micrognathia, High, narrow palate...	ORPHA:435638
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact...	OMIM:620211
Caudal Regression Syndrome	Impulsivity, Joint stiffness, Maternal diabetes, Aplasia/Hypoplasia of the sacrum, Hypoplastic ve...	ORPHA:3027
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Cataract, Sacral dimple, Hyperactivity, Impulsivity, K...	OMIM:610443
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Scoliosis	ORPHA:496790
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Down Syndrome	Abnormality of the lymphatic system, Acute megakaryocytic leukemia	ORPHA:870
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
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
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Leukemia, Embryonal rhabdomyosarcoma	OMIM:257300
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening	OMIM:241310
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Neutropenia	OMIM:618005
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Larsen Syndrome	Joint laxity, Vertebral fusion, Corneal opacity, Cervical kyphosis, Elbow dislocation, Dislocated...	OMIM:150250
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia,...	ORPHA:781
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Fibular Hemimelia	Anophthalmia, Thrombocytopenia	ORPHA:93323
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Anterior concavity of thoracic vertebrae, Persistence of hemoglobin F, Self-injurious behavior, R...	OMIM:617101
Eosinophilic Gastroenteritis	Leukocytosis, Ascites, Eosinophilia, Anemia	ORPHA:2070
Mucopolysaccharidosis, Type Ivb	Joint laxity, Corneal opacity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosi...	OMIM:253010
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Hjv Or Hamp-Related Hemochromatosis	Arthropathy, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferri...	ORPHA:79230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Anemia	OMIM:620135
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes...	OMIM:226300
Focal Segmental Glomerulosclerosis 1	Ascites, Anemia	OMIM:603278
Sandestig-Stefanova Syndrome	Short neck, Orofacial cleft, High palate, Microphthalmia, Retrognathia	OMIM:618804
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Glycogen Storage Disease Ic	Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Hyperuricemia	OMIM:232240
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Optic nerve hypoplasia, Hypoplasia of the maxilla, Atla...	ORPHA:79345
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli...	ORPHA:98813
Dubowitz Syndrome	Abnormality of neutrophils, Lymphoma, Acute lymphoblastic leukemia, Anemia, Neoplasm, Thrombocyto...	ORPHA:235
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Non-Hodgkin lymphoma, Autoimmune thrombocytopenia, ...	ORPHA:331235
Frontorhiny	Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Scoli...	ORPHA:391474
Yellow Nail Syndrome	Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v...	ORPHA:662
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Kyphosis, Astigmatism, Increased mean corpuscular volume, Scoliosis, Dysp...	ORPHA:261250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration	OMIM:613153
Marden-Walker Syndrome	Short neck, Micrognathia, High, narrow palate, Pyloric stenosis, Kyphosis, Cleft palate, High pal...	OMIM:248700
Vici Syndrome	Lymphopenia, Left ventricular hypertrophy, Decreased circulating IgG2 level, Decreased T cell act...	OMIM:242840
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia...	OMIM:227810
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Thrombocy...	OMIM:225750
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, ...	OMIM:206900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Joint stiffness, Splen...	ORPHA:584
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Neoplasm of the nose, Biliary tract neoplasm, Enlarged polycystic ovar...	ORPHA:2869
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Mucopolysaccharidosis Type 4	Joint dislocation, Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Delayed skeletal maturat...	ORPHA:582
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Hurler-Scheie Syndrome	Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenomegaly, Kyphosis, Contracture of...	OMIM:607015
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Hip osteoart...	OMIM:313400
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Neutropenia	OMIM:615471
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Short neck, Orofacial cleft, Wide mouth, Long philtrum...	OMIM:243310
Microphthalmia With Limb Anomalies	Macrodontia, Hypoplasia of the premaxilla, Cleft upper lip, Micrognathia, Hypoplasia of the maxil...	ORPHA:1106
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma	ORPHA:166113
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia, Failure ...	ORPHA:974
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate, Short philtrum, Thick vermilion ...	OMIM:620098
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestas...	OMIM:615895
Overlap Myositis	Elevated hepatic transaminase, Leukopenia, Thrombocytopenia	ORPHA:206572
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors	OMIM:618737
Klippel-Trénaunay Syndrome	Hepatomegaly, Microcytic anemia, Patent ductus arteriosus, Hemangioma, Ascites	ORPHA:90308
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Kyphoscoliosis, Micrognathia	OMIM:610756
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Patent ductus arteriosus, Anemia	ORPHA:1842
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat...	OMIM:612530
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Avian Influenza	Elevated hepatic transaminase, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Trisomy 12P	Short neck, Micrognathia, Cleft palate, Aplasia/Hypoplasia of the iris, Downturned corners of mou...	ORPHA:1699
Medullary cystic kidney disease 2	Hyperuricemia, Gout	OMIM:603860
Noonan Syndrome 2	Patent ductus arteriosus, Leukemia	OMIM:605275
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Absces...	ORPHA:400
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Splenomegaly, Leukocytosis, Hepatomegaly	OMIM:615673
Xanthinuria, Type Ii	Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia	OMIM:603592
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Tracheomalacia	OMIM:612561
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Weight loss	ORPHA:79242
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Carious teeth, Hypoplasia of the maxilla, Posterior wedging of vertebr...	ORPHA:50814
Muckle-Wells Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:575
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h...	OMIM:615688
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Metatarsal osteolysis, Camptodactyly of toe, ...	OMIM:259600
Familial Benign Copper Deficiency	Aplasia/Hypoplasia of the fovea, Anemia	ORPHA:1551
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Farber Disease	Abnormality of the knee, Corneal opacity, Thrombocytopenia, Flexion contracture, Osteoporosis, Ab...	ORPHA:333
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum	ORPHA:93945
Khan-Khan-Katsanis Syndrome	Lymphopenia, Patent ductus arteriosus after premature birth, Anemia, Neutropenia	OMIM:618460
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Carious teeth, Thin vermilion border, Lo...	OMIM:214150
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Thrombocytopenia	OMIM:618775
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Failure...	OMIM:617718
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Elevated circulating C-reactive protein concentration, S...	OMIM:612852
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Abcd Syndrome	Neonatal death, Polycythemia, Large for gestational age	OMIM:600501
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Elbow dislocation, Avascular necrosis o...	ORPHA:2557
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, O...	ORPHA:85167
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Insulin res...	ORPHA:3163
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Corneal opacity, Accelerated skeletal maturation, S...	OMIM:253220
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Brucellosis	Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Miscarriage, Hypersplenism,...	ORPHA:1304
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Holoprosencephaly	Anophthalmia, Median cleft lip, Bilateral cleft lip, Median cleft lip and palate, Short neck, Dee...	ORPHA:2162
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Abnormality of the dentition, Abnormality of ca...	ORPHA:363417
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Hereditary Orotic Aciduria	Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia	ORPHA:30
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Short neck, Abnormal pupil morphology, Abnormal for...	ORPHA:233
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck	OMIM:118100
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Muckle-Wells Syndrome	Leukocytosis	OMIM:191900
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate, Short philtrum,...	OMIM:616449
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy...	ORPHA:2334
Meckel Syndrome, Type 5	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:611561
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir...	OMIM:137920
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab...	OMIM:616549
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia, Large for gestational age	OMIM:616638
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Diabetes mellitus, Joint hyperflexibility, Arthritis, Hyperuricemia, Polydipsia	ORPHA:93111
Isotretinoin Syndrome	Sacral dimple, Spina bifida occulta, Cleft palate, Micrognathia	ORPHA:2305
Fanconi Anemia, Complementation Group S	Macrodontia, Dental malocclusion, Narrow palate, Microphthalmia, Thick upper lip vermilion	OMIM:617883
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Familial Dysautonomia	Hyponatremia, Corneal opacity, Recurrent fractures, Abnormal pupil morphology, Corneal erosion, O...	ORPHA:1764
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Abnormality of the spleen, Microphthalmia, Failure to thrive	ORPHA:2538
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Short neck, Hyper...	ORPHA:1798
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis	OMIM:120100
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Everted lower lip vermi...	ORPHA:782
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Shigellosis	Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic hemolytic anemia, Splenic absce...	ORPHA:810
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Cat-Eye Syndrome	Microphthalmia, Anal atresia	ORPHA:195
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia, Osteosarcoma	OMIM:620072
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Tetraploidy	Aplasia/Hypoplasia affecting the eye, Short philtrum, Cleft palate, Micrognathia	ORPHA:3305
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Long philtrum	ORPHA:261295
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cystinuria	Hyperuricemia	ORPHA:214
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Fanconi Anemia, Complementation Group B	Death in infancy, Optic disc hypoplasia, Aplastic anemia, Patent ductus arteriosus, Thrombocytopenia	OMIM:300514
Moebius Syndrome	Short neck, Abnormality of the dentition, Micrognathia, High palate, Microphthalmia, Bifid uvula	OMIM:157900
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Pneumocystosis	Neoplasm, Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Death in infancy, Anemia	OMIM:618835
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei	ORPHA:250999
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Delayed cranial...	ORPHA:357058
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Death in infancy, Anemia	OMIM:618839
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:397973
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Geroderma Osteodysplasticum	Mandibular prognathia, Kyphoscoliosis, Hypoplasia of the maxilla, Vertebral compression fracture,...	OMIM:231070
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl...	ORPHA:370348
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Skin Creases, Congenital Symmetric Circumferential, 1	Short neck, Micrognathia, Narrow mouth, Cleft palate, High palate, Long philtrum, Microphthalmia	OMIM:156610
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Optic disc coloboma, Opacification o...	OMIM:169550
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:77261
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Hypoplasia o...	OMIM:257850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Orthostatic Hypotension 2	Anemia	OMIM:618182
Postaxial Acrofacial Dysostosis	Radioulnar synostosis, Congenital hip dislocation, Supernumerary vertebrae	OMIM:263750
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Splenomegaly, Juvenile myelomonocytic leukemia, Hepatosplenomegaly	OMIM:613563
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c...	ORPHA:79330
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Abnormally large globe, Cleft palate, St...	OMIM:200610
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Hereditary Chronic Pancreatitis	Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice	ORPHA:676
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Joint laxity, Corneal opacity, Hip dislocation, Developmental catarac...	OMIM:616603
Frontometaphyseal Dysplasia 1	Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C...	OMIM:305620
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Sanjad-Sakati Syndrome	Corneal opacity, Patchy osteosclerosis, Delayed skeletal maturation, Spinal canal stenosis, Astig...	ORPHA:2323
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Temtamy Syndrome	Dental crowding, Micrognathia, Hypoplasia of teeth, Long philtrum, Microphthalmia	OMIM:218340
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Nance-Horan Syndrome	Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc...	OMIM:302350
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Craniosynostosis, Hyperopic astigmatism, Irregular carpal bo...	OMIM:252600
Fanconi Anemia, Complementation Group R	Microphthalmia, Bone marrow hypocellularity, Anemia	OMIM:617244
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia, Microphthalmia	ORPHA:2728
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Squamous cell carcinoma, Neutropenia, Panhyp...	ORPHA:33364
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Thrombocytopenia	ORPHA:96181
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Miscarriage, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Recessive Dystrophic Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79409
Xp22.3 Microdeletion Syndrome	Sacral dimple, Opacification of the corneal stroma	ORPHA:1643
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia	ORPHA:175
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Dubowitz Syndrome	Aplastic anemia, Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma, Decreased circulating IgG...	OMIM:223370
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Abnormal paranasal sinus...	ORPHA:141099
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Abnormally ossified vertebrae, Micrognathia, Orofacial cleft, Narrow mouth...	ORPHA:3301
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Hepatomegaly	ORPHA:834
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Squamous cell carcinoma, Leukopeni...	ORPHA:79277
Basal Cell Nevus Syndrome 1	Vertebral fusion, Cataract, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, ...	OMIM:109400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ...	ORPHA:193
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Limitation of joint mobility, Ocular albinism, Athetosis, Choroideremi...	ORPHA:2719
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Rieger anomaly, Abnormality of the vertebral column	OMIM:109120
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o...	ORPHA:902
Meckel Syndrome	Accessory spleen, Anophthalmia, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancr...	ORPHA:564
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Hepatomegaly	OMIM:230600
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Short philtrum	OMIM:619142
Hurler Syndrome	Corneal opacity, Short neck, Joint stiffness, Splenomegaly, Hypoplasia of the odontoid process, F...	OMIM:607014
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia	OMIM:613730
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, C...	ORPHA:51
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Decreased circulating cerulo...	ORPHA:48818
Microcephaly-Micromelia Syndrome	Micrognathia, Short neck, Cleft palate, Narrow mouth, Neonatal death, Microphthalmia	OMIM:251230
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, High, narrow palate, Cleft palate, Anteriorly placed anus, Scoliosis, L...	OMIM:618494
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Solitary Rectal Ulcer Syndrome	Anemia, Decreased body weight	ORPHA:209964
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc...	OMIM:130720
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Medulloblastoma, Lym...	OMIM:251260
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
8Q21.11 Microdeletion Syndrome	Exaggerated cupid's bow, Abnormality of the dentition, Short neck, Micrognathia, Downturned corne...	ORPHA:284160
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Cervical ribs, Pate...	ORPHA:3320
Copper Deficiency, Familial Benign	Failure to thrive, Anemia	OMIM:121270
3Q29 Microduplication Syndrome	Abnormality of the dentition, Short neck, Deep philtrum, Cleft palate, Ectopic anus, High palate,...	ORPHA:251038
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Bull's eye maculopathy,...	OMIM:213980
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Leigh Syndrome	Hepatic failure, Anemia, Neutropenia	ORPHA:506
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Stevenson-Carey Syndrome	Pierre-Robin sequence, Downturned corners of mouth, Scoliosis, Narrow mouth, Microphthalmia	OMIM:611961
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia	OMIM:263700
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Acute lymphoblastic leukemia, Neoplasm, Nephr...	ORPHA:1052
Neuroblastoma, Susceptibility To, 1	Abdominal mass, Ganglioneuroblastoma, Neuroblastoma, Ganglioneuroma, Anemia	OMIM:256700
Afibrinogenemia, Congenital	Death in infancy, Splenic rupture, Death in adolescence, Death in childhood, Neonatal death	OMIM:202400
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Thrombocytopenia, Elevated hepatic transaminase	ORPHA:99901
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Carney Triad	Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre...	ORPHA:139411
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla, Malar fla...	OMIM:620157
Tarp Syndrome	Cryptorchidism, Extramedullary hematopoiesis	ORPHA:2886
Mucopolysaccharidosis, Type Iva	Joint laxity, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hy...	OMIM:253000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia	OMIM:613155
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia	OMIM:167730
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Cleft palate	OMIM:607597
Mucopolysaccharidosis Type 3	Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone mineral density, Retinal...	ORPHA:581
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Op...	ORPHA:585
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Narrow mouth	ORPHA:1529
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate	ORPHA:85279
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria	OMIM:229600
Acro-Renal-Ocular Syndrome	Vertebral fusion, Cataract, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Vertebral se...	ORPHA:959
Hydatidiform Mole	Miscarriage, Anemia	ORPHA:99927
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla...	ORPHA:245
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Multiple myeloma	ORPHA:188
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Shor...	ORPHA:2059
Gaucher Disease	Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Tremor, Ost...	ORPHA:355
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
High Altitude Pulmonary Edema	Leukocytosis	ORPHA:330012
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Compulsive behavi...	ORPHA:534
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Anemia	ORPHA:67
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Leukopenia, Increased circulating...	ORPHA:505248
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Osteoporosi...	OMIM:618000
Ritscher-Schinzel Syndrome 3	Microphthalmia, Thin upper lip vermilion, Poorly ossified vertebrae, Micrognathia	OMIM:619135
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Abnorm...	ORPHA:763
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Short neck, Microcytic anemia	ORPHA:98791
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Abnormality...	ORPHA:84064
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome...	ORPHA:131
Mucopolysaccharidosis Type 1	Joint dislocation, Corneal opacity, Joint stiffness, Splenomegaly, Optic atrophy, Spinal canal st...	ORPHA:579
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con...	ORPHA:536471
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Urachal Cyst	Abdominal mass, Abscess, Leukocytosis, Peritonitis, Neoplasm	ORPHA:488
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Micro...	OMIM:618727
Incontinentia Pigmenti	Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Camptodactyly of finger, Abnormal ch...	ORPHA:464
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Chromosome 8Q21.11 Deletion Syndrome	Exaggerated cupid's bow, Short neck, Micrognathia, Cleft palate, Downturned corners of mouth, Hig...	OMIM:614230
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Brittle Cornea Syndrome 1	Keratoconus, Joint laxity, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, ...	OMIM:229200
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur...	OMIM:265000
Hereditary Xanthinuria	Arthropathy, Hypouricemia, Gout, Hyperxanthinemia, Rheumatoid arthritis	ORPHA:3467
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Long philtrum	OMIM:615877
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti...	ORPHA:1307
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Splenomegaly, Corneal opacity, Retinal degeneration	OMIM:272200
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Anophthalmia, Persistence of primary teeth, Supernumerary tooth, Phthi...	OMIM:300166
Aredyld Syndrome	Splenomegaly, Refractory anemia with ringed sideroblasts, Hepatomegaly	ORPHA:1133
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Ivic Syndrome	Patent ductus arteriosus, Leukocytosis, Thrombocytopenia	OMIM:147750
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Bilateral microphthalmos, Downturned corners of mouth, Macrogl...	ORPHA:369891
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Left ventricular hypertrophy, Cholesteatoma, Thrombocytopenia	OMIM:611209
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Long philtrum	OMIM:300887
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Gout	OMIM:300661
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia, Squamous cell carcinoma	OMIM:613951
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Hyperlordosi...	ORPHA:568
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Jaundice, Neutropenia	OMIM:617248
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Cataract, Tarsal synostosis, Camptodactyly of finger, Elbow dislo...	ORPHA:90652
Mucopolysaccharidosis, Type Iiic	Hyperactivity, Kyphoscoliosis, Joint stiffness, Splenomegaly, Rod-cone dystrophy, Ovoid thoracolu...	OMIM:252930
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibros...	ORPHA:79240
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Hypophosphatemic rickets	OMIM:163200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Unilateral microphthalmos, Bilateral cleft lip and palate, High palate,...	OMIM:618874
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Developmen...	ORPHA:93400
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia...	OMIM:170390
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Microphthalmia	OMIM:614105
Gm1-Gangliosidosis, Type I	Splenomegaly, Vacuolated lymphocytes, Hepatomegaly	OMIM:230500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Microphthalmia, Retrognathia	OMIM:618914
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Atelis Syndrome 2	Microphthalmia, Thrombocytopenia, Patent ductus arteriosus, Anemia	OMIM:620185
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Hyperactivity, Papilledema, Corneal opacity, Abnormality of ret...	ORPHA:580
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Micrognathia, Downturned corners of mouth, Malar flattening	ORPHA:264200
Scheie Syndrome	Splenomegaly, Limitation of joint mobility, Corneal opacity, Joint stiffness	ORPHA:93474
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology	ORPHA:1540
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Increased circulating IgA level, Enlarged polycystic ovaries, Lymphoma, Biliary...	ORPHA:2298
Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Opacification of the corneal stroma	ORPHA:461
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:615108
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Hepatiti...	OMIM:615846
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Osteomyelitis, Neuropathic arthropathy, Keratitis, Corneal scarring, Recurrent cor...	OMIM:256800
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Mucolipidosis Type Iv	Retinopathy, Genu recurvatum, Corneal opacity, Abnormality of retinal pigmentation	ORPHA:578
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:85414
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Warburg Micro Syndrome 3	Kyphoscoliosis, Micrognathia, Narrow palate, Downturned corners of mouth, Microphthalmia	OMIM:614222
Keipert Syndrome	Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow	ORPHA:2662
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath...	OMIM:608670
Joubert Syndrome 37	Microphthalmia, Lumbar hyperlordosis, High palate	OMIM:619185
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Micrognathia, Cleft palate, Long philtrum	ORPHA:2505
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphopenia, Thromb...	ORPHA:319213
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:252920
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Genu valgum, Opacifi...	ORPHA:583
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Platyspondyly, Opacification of the corneal stroma	OMIM:601356
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Short neck, Splenomegaly, Limitation of joint mobility,...	ORPHA:93473
Micro Syndrome	Micrognathia, Kyphosis, High palate, Short philtrum, Scoliosis, Microphthalmia	ORPHA:2510
Zygomycosis	Brain abscess, Hematological neoplasm, Mediastinal lymphadenopathy, Peritonitis, Hepatitis, Neutr...	ORPHA:73263
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp...	ORPHA:2785
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Decreased circulating antibody lev...	ORPHA:470
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Lymphoproliferative disorder, Lymphoma, Biliary cirr...	ORPHA:289390
Kbg Syndrome	Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kypho...	OMIM:148050
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Mosaic Trisomy 9	Corneal opacity, Camptodactyly of finger, Short neck, Asplenia, Elbow dislocation, Limitation of ...	ORPHA:99776
Shashi-Pena Syndrome	Hypoglycemia, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 ...	OMIM:617190
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Microphthalmia, Ma...	OMIM:201180
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Rift Valley Fever	Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Incr...	ORPHA:319251
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Micrognathia, Cleft palate, Wide...	OMIM:243605
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly	OMIM:617333
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening	ORPHA:79113
Bacterial Toxic-Shock Syndrome	Abscess, Peritonitis, Increased circulating myelocyte count, Hepatitis, Increased circulating met...	ORPHA:36234
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased circulating a...	ORPHA:293978
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation...	OMIM:601812
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Aarskog-Scott Syndrome	Cleft upper lip, Short neck, Hypoplasia of the odontoid process, Cervical spine hypermobility, Hy...	OMIM:305400
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the maxilla, High palate, S...	OMIM:212720
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate	ORPHA:207
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease...	OMIM:613385
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphol...	ORPHA:98907
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l...	OMIM:619148
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Patent ductus arteriosus	OMIM:609942
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move...	ORPHA:1826
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Death in childhood, Decreased body weight, Thro...	OMIM:619005
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Ascites, Thrombocytopenia	OMIM:301072
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Micrognathia, Thin vermilion border, Long philtrum, Microphthalmia, Bif...	OMIM:241410
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227990
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla	OMIM:618302
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Momo Syndrome	Delayed eruption of teeth, Short neck, Bilateral microphthalmos, Thick lower lip vermilion, Denta...	ORPHA:2563
Ellis Van Creveld Syndrome	Acute leukemia	ORPHA:289
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Lymphoma	ORPHA:2526
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Eosinophilia, Decreased circulating antibody level, Lymphopenia, Hepatic cysts	OMIM:617425
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:261323
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Cataract, Corneal opacity, Optic disc pallor, Craniosynos...	ORPHA:309282
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Short neck, Limitation of joint mobility, Patellar apla...	ORPHA:96061
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B...	ORPHA:1942
Noonan Syndrome 4	Thrombocytopenia, Large for gestational age	OMIM:610733
Fraser Syndrome	Anal stenosis, Anophthalmia, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cle...	ORPHA:2052
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the s...	OMIM:620040
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Bone pain, Increased susceptibility to ...	ORPHA:3337
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Aicardi Syndrome	Retinal detachment, Cataract, Block vertebrae, Chorioretinal lacunae, Optic disc coloboma, Hemive...	OMIM:304050
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v...	OMIM:171480
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Micrognathia, Bilateral microphthalmos, Microglossia, Prominent protruding ...	ORPHA:2839
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:615109
Molybdenum Cofactor Deficiency, Complementation Group B	Opisthotonus, Ectopia lentis, Hypouricemia, Lens luxation	OMIM:252160
Cerebrooculofacioskeletal Syndrome 4	Kyphoscoliosis, Micrognathia, Bilateral microphthalmos, Abnormality of the vertebral column, Shor...	OMIM:610758
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte...	OMIM:619487
Down Syndrome	Patent ductus arteriosus, Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Anemia, Hepatomegaly	OMIM:239200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p...	OMIM:616300
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
8Q22.1 Microdeletion Syndrome	Short neck, Hypoplasia of the maxilla, Abnormality of the dentition, Submucous cleft hard palate,...	ORPHA:178303
Acrodysostosis	Delayed eruption of teeth, Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Spinal ca...	ORPHA:950
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Microphthalmia, Smooth philtrum	OMIM:618652
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Agitation, Compulsive behaviors, Aniridia, Polyph...	OMIM:612469
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Scoliosis, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno...	OMIM:617600
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, High palate, Scoliosis	OMIM:218000
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Carpenter Syndrome 1	Sacral dimple, Sagittal craniosynostosis, Short neck, Lateral displacement of patellae, Optic atr...	OMIM:201000
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Vertebral hyperostosis, T...	OMIM:164200
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Lip pit, Hypodontia, Scoliosis, Microphthalmia, Abnormal palate morphology	ORPHA:1236
Mucopolysaccharidosis, Type Vi	Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, Joint stiffness, A...	OMIM:253200
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Lumbosacral meningocele, Schistocytosis...	OMIM:607330
Molybdenum Cofactor Deficiency, Complementation Group A	Opisthotonus, Ectopia lentis, Hypouricemia, Lens luxation	OMIM:252150
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death in childhood, Failure to thrive, Anemia	OMIM:616457
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Cleft upper lip, Abnormal soft palate morphology, Hemive...	ORPHA:138
Poland Syndrome	Retinal hamartoma, Abnormality of the liver, Neoplasm of the breast, Acute leukemia	ORPHA:2911
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, ...	ORPHA:464738
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ...	ORPHA:2409
Rapp-Hodgkin Syndrome	Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth...	OMIM:129400
Marshall Syndrome	Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion,...	ORPHA:560
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227982
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Kyphosis, Deep philtrum, Cleft palate, Downturned corners of mouth, Ver...	ORPHA:251014
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis	ORPHA:51890
Kapur-Toriello Syndrome	Microphthalmia, Intestinal malrotation, Orofacial cleft, Short neck	ORPHA:2328
Ohdo Syndrome, X-Linked	Hiatus hernia, Micrognathia, Thin vermilion border, High palate, Widely spaced teeth, Scoliosis, ...	OMIM:300895
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Chime Syndrome	Acute leukemia	ORPHA:3474
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Diabetes mellitus, Joint stiffness, Splenomegaly, Increased circulating ferritin con...	ORPHA:465508
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep...	OMIM:619381
Craniofacial Microsomia 1	Anophthalmia, Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Hemivert...	OMIM:164210
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia	ORPHA:436271
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Patent ductus arteriosus, Neutropenia	ORPHA:163956
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypoplasia of the ovary, Pituitary hypothyro...	ORPHA:66628
Bartsocas-Papas Syndrome	Popliteal pterygium, Synostosis of joints, Corneal opacity	ORPHA:1234
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Sho...	OMIM:601499
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Diabetes mellitus, Abnormal erythrocyte enzyme leve...	ORPHA:101330
Fucosidosis	Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae	ORPHA:349
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Zellweger Syndrome	Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Optic atrophy, Ep...	ORPHA:912
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum	ORPHA:228396
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Acute lymphoblastic leukemia, Hepatomegaly, Elevated circulating alanine aminotransferase concent...	OMIM:280000
Lissencephaly 8	Microphthalmia	OMIM:617255
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly	OMIM:252900
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia	ORPHA:2959
Meckel Syndrome, Type 2	Microphthalmia, Intestinal malrotation, Cleft palate	OMIM:603194
Kapur-Toriello Syndrome	Intestinal malrotation, Short neck, Cleft upper lip, Cleft palate, Scoliosis, Microphthalmia	OMIM:244300
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Lymphedema-Distichiasis Syndrome	Micrognathia, Cleft upper lip, Kyphosis, Cleft palate, Microphthalmia	OMIM:153400
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Astigmatism, Flat acetabular roof	OMIM:617159
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien...	ORPHA:100075
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Fused cervical vertebrae, Attention deficit hyperactivity disorder, Spina bifida occulta, Butterf...	OMIM:619227
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Elevated circulating long chain fatty acid concentration, Optic nerve...	OMIM:214110
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l...	ORPHA:367
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement	OMIM:620233
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Tick-Borne Encephalitis	Elevated hepatic transaminase, Leukocytosis, Leukopenia, Increased circulating IgG level, Increas...	ORPHA:297
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Ascites	ORPHA:314478
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ...	OMIM:175780
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion	ORPHA:370010
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Hyperlordosis, Micrognathia, High, narrow palate, Supernum...	OMIM:234100
Pachydermoperiostosis	Hepatomegaly, Splenomegaly, Neoplasm of the lung, Neoplasm of the skin, Anemia	ORPHA:2796
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Platyspondyly	OMIM:300863
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypoplasia of the ovary, Pituitary hypothyro...	ORPHA:179494
Rubinstein-Taybi Syndrome 1	Accessory spleen, Patent ductus arteriosus, Papillary cystadenoma of the epididymis, Neoplasm, He...	OMIM:180849
Molybdenum Cofactor Deficiency, Complementation Group C	Hypocystinemia, Hypouricemia, Hypertaurinemia	OMIM:615501
Adams-Oliver Syndrome 2	Microphthalmia, Micrognathia	OMIM:614219
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Patellar aplasia, Hip di...	OMIM:274000
Joubert Syndrome 14	Tented upper lip vermilion, Cleft palate, Short philtrum, Microphthalmia, Open mouth, Malar flatt...	OMIM:614424
Chronic Thromboembolic Pulmonary Hypertension	Neoplasm, Myeloproliferative disorder	ORPHA:70591
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Nephroblastoma, Ependymoma, Annular pancreas, Teratoma, Hepatoblastoma, ...	ORPHA:798
Alg12-Cdg	Elevated hepatic transaminase, Partial absence of specific antibody response to Haemophilus influ...	ORPHA:79324
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Hyperlipidem...	ORPHA:324
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Liposarcoma	Sarcoma	ORPHA:69078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Spinal rigidity, Cleft palate, Buphthalmos, Macroglossia, Scoliosis, Microphthalmia	OMIM:613150
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Patent ductus arteriosus, Anemia, Capillary hemangioma, Thrombocytopenia	ORPHA:163979
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Abnormal rectum mor...	ORPHA:2556
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma	ORPHA:764
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia	ORPHA:99843
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Scoliosis, Micrognathia	ORPHA:494344
Whipple Disease	Splenomegaly, Mediastinal lymphadenopathy, Anemia, Hepatomegaly	ORPHA:3452
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:236670
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, High palate, Micro...	ORPHA:35173
Focal Dermal Hypoplasia	Delayed eruption of teeth, Anophthalmia, Intestinal malrotation, Cleft upper lip, Hiatus hernia, ...	OMIM:305600
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss	ORPHA:52417
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Branchiooculofacial Syndrome	Anophthalmia, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit,...	OMIM:113620
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, A...	ORPHA:97282
Rodrigues Blindness	Microphthalmia, Tooth malposition	OMIM:268320
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level	OMIM:248500
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Delayed ...	OMIM:268310
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard...	ORPHA:2588
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger	ORPHA:1794
Thauvin-Robinet-Faivre Syndrome	Nephroblastoma, Transient neutropenia	OMIM:617107
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia, Abnormal T cell subset distribution, Decreased circulating antibody level...	ORPHA:221139
Steinfeld Syndrome	Abnormality of the vertebral column, Microphthalmia, Abnormal vertebral morphology, Bifid uvula, ...	OMIM:184705
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Transient neutropenia, Chronic neutropenia, Enlarged kidney	ORPHA:500095
Heart And Brain Malformation Syndrome	Cleft lip, High, narrow palate, Thick lower lip vermilion, Everted lower lip vermilion, Microphth...	OMIM:616920
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Cervical hemivertebrae, Optic nerve hypoplasia, Short neck, Generalized joint...	ORPHA:508498
Alport Syndrome 1, X-Linked	Diffuse leiomyomatosis, Thrombocytopenia	OMIM:301050
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ...	ORPHA:87
Osteopetrosis, Autosomal Recessive 9	Anemia	OMIM:620366
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Noonan Syndrome 1	Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Patent ductus arteriosus, Juvenile myelomono...	OMIM:163950
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
American Trypanosomiasis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Squamous cell carcinoma	OMIM:226600
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism	OMIM:619769
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Anemia	OMIM:220110
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Abnormality of the dentition, Broad philtrum, Conical tooth	ORPHA:228390
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Corneal opacity, Ankle flexion contracture, Kyphosis, Abno...	ORPHA:464311
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Pi...	ORPHA:97283
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Branchioskeletogenital Syndrome	Mandibular prognathia, Abnormality of the vertebral spinous processes, Unilateral cleft palate, T...	ORPHA:1299
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Fraser Syndrome 1	Abnormal small intestine morphology, Anophthalmia, Dental crowding, Cleft upper lip, Bilateral mi...	OMIM:219000
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi...	ORPHA:293939
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume	OMIM:616737
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Patent ductus arteriosus, Spherocytosis	ORPHA:251066
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Abnormality of th...	OMIM:123500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat...	OMIM:301074
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, Cleft palate...	OMIM:106260
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Gardner Syndrome	Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Pat...	OMIM:602782
Generalized Pustular Psoriasis	Overweight, Leukocytosis, Lymphopenia, Obesity	ORPHA:247353
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Diamond-Blackfan Anemia 10	Macrocytic anemia, Patent ductus arteriosus, Reticulocytopenia, Steroid-responsive anemia, Anemia	OMIM:613309
Ophthalmomandibulomelic Dysplasia	Elbow dislocation, Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal...	OMIM:164900
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure...	OMIM:276700
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Optic disc coloboma, Op...	ORPHA:50
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis	ORPHA:1064
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Hypoplasia of the maxilla, Microspherophakia, Spinal canal stenosis, Narrow...	OMIM:277600
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Abnormal lymph node morphology, Decreased live...	ORPHA:85450
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Kyphosis, Orofacial cl...	ORPHA:77301
Duane-Radial Ray Syndrome	Cataract, Optic disc hypoplasia, Fused cervical vertebrae, Shoulder dislocation, Retinal coloboma...	OMIM:607323
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
De Barsy Syndrome	Osteopenia, Cataract, Corneal opacity, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2962
Congenital Disorder Of Deglycosylation 1	Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng...	OMIM:615273
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Alveolar ridge overgrowth, Cleft palate, M...	OMIM:260660
Teebi-Shaltout Syndrome	High, narrow palate, Cleft palate, Wide mouth, Oligodontia, Narrow mouth, Microphthalmia, Promine...	OMIM:272950
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Hypoplasia of the maxilla, Thin vermilion border, High palate, Long phil...	ORPHA:481152
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Retrognathia, Hypoplasia of teeth	OMIM:234050
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Anal atresia, Micrognathia	ORPHA:1352
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa...	ORPHA:2072
Frontofacionasal Dysplasia	Microphthalmia, Non-midline cleft lip, Cleft palate	ORPHA:1791
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Scoliosis, Abnormally large globe	OMIM:615249
Van Maldergem Syndrome 1	Irregular dentition, Sacral dimple, Tented upper lip vermilion, Micrognathia, Hypoplasia of the m...	OMIM:601390
Deeah Syndrome	Hepatomegaly, Decreased hemoglobin concentration, Death in infancy, Death in adolescence, Death i...	OMIM:619004
Mycophenolate Mofetil Embryopathy	Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic vertebrae, Microphthalmia	ORPHA:268249
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Bila...	OMIM:610828
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Rieger anomaly, Sacral dimple, Kyphosis, Delayed skeletal mat...	OMIM:194190
Mosaic Trisomy 1	Microretrognathia, Thoracic scoliosis, Thick lower lip vermilion, Cleft palate, Orofacial cleft, ...	ORPHA:1692
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Craniosynostosis, Self-injurious behavior, Opacification of the corneal stroma, Wo...	OMIM:601853
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Decreased response to growth hormone stimulation test, Absent circulating ...	OMIM:307200
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Reni Syndrome	Lymphopenia	OMIM:617575
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Joint laxity, Hyperactivity, Diabetes mellitus, Aggressive behavior, Self-injurious behavior, Sco...	ORPHA:449291
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Congenital hip dislocation, Hypoglycemia, Camptodactyly of finger, Accelerated ...	ORPHA:373
Congenital Muscular Dystrophy With Cerebellar Involvement	Macroglossia, Microphthalmia, Lumbar hyperlordosis, Optic nerve hypoplasia	ORPHA:370959
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Weight loss,...	ORPHA:29073
Chops Syndrome	Cataract, Splenomegaly, Optic atrophy, Tracheomalacia, Cervical C2/C3 vertebral fusion	OMIM:616368
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Elsahy-Waters Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Mandibular prognathia, Hypopl...	OMIM:211380
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Cleft palate, Orofacial cleft...	ORPHA:2166
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen...	ORPHA:275761
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Delayed skeletal maturation, Imbalanced hemogl...	ORPHA:330015
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Short neck, Hemivertebrae, Punctate vertebral calcifications, Scoliosis, Micropht...	OMIM:302960
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c, Dystonia	OMIM:616113
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Micrognathia	OMIM:617306
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Short neck, Pigmentary retinopathy, Axenfeld anomaly, Opacification of the corneal ...	OMIM:612582
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hamartom...	OMIM:158350
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Short neck, Cleft lip, Micrognathia, C...	OMIM:617925
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Short Stature, Microcephaly, And Endocrine Dysfunction	Truncal obesity, Lymphopenia, Anemia	OMIM:616541
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence o...	ORPHA:99826
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum...	OMIM:309520
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia, Annular pancreas, Failure to thrive, Thrombocytopenia	OMIM:147791
Myhre Syndrome	Vertebral fusion, Cataract, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged v...	OMIM:139210
Tetraamelia Syndrome 2	Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia	OMIM:618021
Familial Tumoral Calcinosis	Splenomegaly, Neoplasm of the skin, Hepatomegaly	ORPHA:53715
Frontofacionasal Dysplasia	Cleft upper lip, Orofacial cleft, Microphthalmia, Malar flattening, Bifid uvula, Hypoplasia of th...	OMIM:229400
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Submucous cleft ha...	OMIM:301043
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Microphthalmia, Syndromic 6	Anophthalmia, Micrognathia, Cleft palate, High palate, Microphthalmia, Microglossia, Retrognathia...	OMIM:607932
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, Hem...	OMIM:301040
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Corneal opacity, Hypoalbuminemia, Anemia	ORPHA:79396
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t...	ORPHA:666
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, Aganglionic megacolon, Lumbar hyperlordosis, Cleft upper lip, Kyph...	OMIM:309800
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Micrognathia, Rectal atresia, Cleft palate...	OMIM:115470
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Abnormal abdome...	ORPHA:97280
Pancreatic And Cerebellar Agenesis	Death in infancy, Failure to thrive, Optic nerve hypoplasia, Pancreatic hypoplasia, Anemia, Pancr...	OMIM:609069
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Meckel Syndrome, Type 4	Microphthalmia, Cleft palate	OMIM:611134
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Corneal erosion, Flexion contracture, Anemia, Decreased circulating carniti...	ORPHA:89842
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Scoliosis, Dysphagia, Cervical C2/C3 vertebral fusion, Ante...	ORPHA:268882
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Vacuolated lymphocytes, Pancreatitis, Hepatomegaly	ORPHA:565612
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Multiple joint contractures, Corneal opacity, Kyphosis, Abnorma...	ORPHA:464306
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car...	ORPHA:157794
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Ascites, Thrombocytopenia	ORPHA:464321
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Kyphoscoliosis, Micrognathia, Supernumerary too...	OMIM:268400
Monosomy 9P	Abnormality of the dentition, Short neck, Micrognathia, Cleft palate, Abnormality of the vertebra...	ORPHA:261112
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Corneal opacity, Iris coloboma	ORPHA:1647
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill...	OMIM:300534
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Short neck, Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Clef...	OMIM:614083
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,...	ORPHA:508533
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function, Hepatomegaly	OMIM:201100
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long philtrum, Retrognathia	OMIM:608149
Charge Syndrome	Anophthalmia, Patent ductus arteriosus, Unilateral microphthalmos, Microphthalmia, Lymphopenia, A...	OMIM:214800
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity, Madelung deformity	ORPHA:1765
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level...	ORPHA:85443
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch	OMIM:616462
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Saethre-Chotzen Syndrome	Hyperlordosis, Open bite, Hypoplasia of the maxilla, Cleft palate, Narrow palate, Abnormal form o...	ORPHA:794
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate	OMIM:614261
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, B l...	ORPHA:83617
Mucolipidosis Ii Alpha/Beta	Osteopenia, Increased serum beta-hexosaminidase, Megalocornea, Thoracolumbar kyphoscoliosis, Hypo...	OMIM:252500
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia	ORPHA:544482
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Rieger anomaly, Anal stenosis, Hypoplasia of the maxilla, Hypoplasia of...	OMIM:180500
Tbck-Related Intellectual Disability Syndrome	Prominent metopic ridge, Corneal opacity, Short neck, Delayed skeletal maturation, Osteoporosis, ...	ORPHA:488632
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Sandifer Syndrome	Anemia	ORPHA:71272
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Nephronophthisis 4	Anemia	OMIM:606966
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals	OMIM:219750
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor...	ORPHA:217085
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Abnorm...	ORPHA:797
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Thrombocytopenia, Patent ductus arter...	ORPHA:84
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Joint stiffness, Flexion contracture, Optic atrophy, Self-injurious behavior...	ORPHA:847
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Desmoid Tumor	Fibroma, Neoplasm of the skin, Desmoid tumors	ORPHA:873
Congenital Fibrinogen Deficiency	Microphthalmia, Volvulus, Gingival bleeding	ORPHA:335
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Increased circulating IgA level, Splenomegaly, Lymphadenopathy, ...	OMIM:256040
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Hemangioma, Subcutaneous lipoma, Exostoses	ORPHA:2969
Van Maldergem Syndrome 2	Irregular dentition, Sacral dimple, Tented upper lip vermilion, Micrognathia, Hypoplasia of the m...	OMIM:615546
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Abnor...	ORPHA:217093
Camurati-Engelmann Disease	Slender build, Bone marrow hypocellularity, Anemia	OMIM:131300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system	ORPHA:231736
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Mend Syndrome	Sacral dimple, Asymmetry of the mouth, Micrognathia, Kyphosis, Cleft palate, High palate, Microph...	ORPHA:401973
Pfeiffer Syndrome	Mandibular prognathia, High palate, Hypoplasia of the maxilla, Dental crowding	OMIM:101600
Warburg Micro Syndrome 4	Microphthalmia, Long philtrum, Narrow mouth	OMIM:615663
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Microphthalmi...	ORPHA:306542
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Meckel Syndrome 14	Microretrognathia, Micrognathia, Short neck, Microphthalmia, Retrognathia	OMIM:619879
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, Micrognathia, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Incontinentia Pigmenti	Hypoplasia of the fovea, Delayed eruption of teeth, Kyphoscoliosis, Conical tooth, Hemivertebrae,...	OMIM:308300
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell...	ORPHA:3132
Pallister-Hall Syndrome	Natal tooth, Cleft upper lip, Hemivertebrae, Cleft palate, Anteriorly placed anus, Neonatal death...	OMIM:146510
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Patent ductus arteriosus, Abnormality of the lymphatic system, Increased mean p...	ORPHA:487796
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia, Narrow mouth	OMIM:613804
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Phthisis bulbi, Platyspondyly, Scoliosis, Biconcave vertebral bodies, M...	OMIM:259770
Juvenile Polyposis Syndrome	Duodenal adenocarcinoma, Anemia	OMIM:174900
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Bilateral microphthalmos, Cleft palate, Wide mouth, Abnormal par...	OMIM:154500
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Anemia, Decreased body weight	ORPHA:340
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Short neck, Hypoplasia of the maxilla, Ev...	OMIM:608156
3Mc Syndrome 3	Sacral dimple, Radioulnar synostosis, Corneal opacity	OMIM:248340
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Renal tubular epithelial necrosis, Anemia, Neutropenia	ORPHA:95455
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon...	OMIM:613805
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess	OMIM:116920
Pseudotrisomy 13 Syndrome	Cleft upper lip, Hemivertebrae, Microphthalmia, Anal atresia, Median cleft lip and palate	OMIM:264480
Focal Dermal Hypoplasia	Corneal opacity, Camptodactyly of finger, Ectopia lentis, Hypoplasia of the iris, Scoliosis, Chor...	ORPHA:2092
Nephronophthisis 1	Anemia	OMIM:256100
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Short neck, Aggressive behavior, Buph...	ORPHA:495875
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Tremor, Abnormal form of the vert...	ORPHA:904
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma, ...	OMIM:256540
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae...	OMIM:108720
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Stickler Syndrome	Abnormal dental enamel morphology, Cleft upper lip, Open bite, Kyphosis, Micrognathia, Hypoplasia...	ORPHA:828
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Joint subluxation...	OMIM:221800
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Small for gestational age, Anemia	OMIM:127000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Decreased circulating antibod...	ORPHA:247598
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Microphthalmia, Triangular mouth, Retrognathia	OMIM:601675
Fryns Syndrome	Microretrognathia, Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cle...	OMIM:229850
Galloway-Mowat Syndrome 3	Micrognathia, Hiatus hernia, High palate, Narrow mouth, Microphthalmia	OMIM:617729
Hennekam Syndrome	Benign neoplasm of the central nervous system, Lymphopenia, Splenomegaly, Pulmonary lymphangiecta...	ORPHA:2136
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Dental malocclusion, High palate, Microphthalmia, Retrognathia, Malar flattening, Bifid uvula	OMIM:601552
Kindler Epidermolysis Bullosa	Corneal opacity, Camptodactyly of finger, Flexion contracture, Conjunctivitis, Dysphagia, Anemia	ORPHA:2908
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Weig...	ORPHA:79078
Curry-Jones Syndrome	Microphthalmia, Intestinal malrotation	ORPHA:1553
Camurati-Engelmann Disease	Splenomegaly, Leukopenia, Anemia, Hepatomegaly	ORPHA:1328
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Hepat...	ORPHA:14
Infantile Nephropathic Cystinosis	Rickets, Abnormal blood ion concentration, Hypophosphatemia, Pigmentary retinopathy, Abnormal cor...	ORPHA:411629
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X...	ORPHA:238468
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Simpson-Golabi-Behmel Syndrome, Type 1	Accelerated skeletal maturation, Splenomegaly, Vertebral segmentation defect, Six lumbar vertebra...	OMIM:312870
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Cataract, Brushfield spots, Splenomegaly, Conjugated hyperbi...	OMIM:614866
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Macrodontia, Micrognathia, Cleft palate, High pa...	OMIM:309500
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Hyperextensible hand joints, Camptodactyly	OMIM:227330
Hereditary Sensory And Autonomic Neuropathy Type 4	Nail-biting, Hyperactivity, Osteomyelitis, Neuropathic arthropathy, Impulsivity, Corneal scarring...	ORPHA:642
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Micrognathia, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridge...	OMIM:616975
7Q31 Microdeletion Syndrome	Wide mouth, Hypoplasia of the maxilla, Scoliosis, Long philtrum	ORPHA:251061
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed an...	ORPHA:314679
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Hypoplasia of the maxilla, Microspherophakia, Spinal canal stenosis, Narrow...	OMIM:608328
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Elevated serum transaminases during infection...	ORPHA:509
Trisomy 18	Microretrognathia, Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate, Narrow...	ORPHA:3380
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Short neck, Carious teeth, Micrognathia, Cleft palate, Narrow mouth, Mi...	OMIM:616734
Isolated Arrhinia	Microphthalmia, Hypoplasia of the nasal bone	ORPHA:1134
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Delayed skeletal matura...	OMIM:219800
Apert Syndrome	Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat...	OMIM:101200
1Q21.1 Microdeletion Syndrome	High palate, Scoliosis, Long philtrum, Microphthalmia, Ankyloglossia	ORPHA:250989
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cleft palate, High, narrow palate	ORPHA:2714
Meige Disease	Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Van Den Ende-Gupta Syndrome	Sacral dimple, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cle...	OMIM:600920
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormality of the tonsils, Abnormality of thrombocytes, Splenomegaly, ...	ORPHA:567
Digeorge Syndrome	Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Obesity, Anemia, Abnormal thymu...	OMIM:188400
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Delayed eruption of primary teeth	OMIM:300952
Galloway-Mowat Syndrome 1	Hiatus hernia, Micrognathia, Hypoplasia of the iris, Wide mouth, High palate, Microphthalmia	OMIM:251300
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Oligodontia, Abnormality of the dentition	ORPHA:2095
Wolf-Hirschhorn Syndrome	Sacral dimple, Sclerocornea, Kyphosis, Delayed skeletal maturation, Osteoporosis, Optic atrophy, ...	ORPHA:280
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Scoliosis...	OMIM:157170
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck	ORPHA:1780
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2554
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Jacobsen Syndrome	Death in infancy, Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Lymphopenia	ORPHA:2306
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Primary Hyperoxaluria Type 1	Failure to thrive, Anemia	ORPHA:93598
Stuve-Wiedemann Syndrome 1	Enlarged joints, Ovoid vertebral bodies, Short neck, Osteoporosis, Elbow flexion contracture, Dys...	OMIM:601559
Tetraamelia Syndrome 1	Micrognathia, Cleft upper lip, Cleft palate, Microphthalmia, Anal atresia	OMIM:273395
Roberts Syndrome	Short neck, Cleft upper lip, Micrognathia, Cleft palate, High palate, Microphthalmia, Malar flatt...	ORPHA:3103
Oculoectodermal Syndrome	Hyperactivity, Short neck, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the ...	OMIM:600268
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, C1-C2 vertebral abno...	OMIM:182212
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Short neck, Hypoplasia of the maxilla, Oligodontia, Everted lower lip verm...	OMIM:609460
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He...	ORPHA:90062
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Cataract, Brushfield spots, Delayed skeletal maturation, Elevated circulating ...	OMIM:214100
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin...	ORPHA:116
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Fibrosarcoma, Histiocytoma, Osteosarcoma	OMIM:112250
Histiocytoid Cardiomyopathy	Corneal opacity, Hypoglycemia, Optic atrophy, Megalocornea, Congenital aphakia	ORPHA:137675
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Patent ductus arteriosus, Acute ...	ORPHA:821
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening...	OMIM:613717
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Lymphadenopathy, Anemia, Hepatomegaly	ORPHA:667
Bartsocas-Papas Syndrome 1	Anal stenosis, Cleft upper lip, Short neck, Hypoplasia of the maxilla, Micrognathia, Cleft palate...	OMIM:263650
Shprintzen-Goldberg Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the vertebral bodi...	ORPHA:2462
Distal Deletion 19P	Hypoplasia of the maxilla, Short philtrum, Cleft palate	ORPHA:96129
Multiple Endocrine Neoplasia Type 4	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ...	ORPHA:276152
Fontaine Progeroid Syndrome	Mandibular prognathia, Thin upper lip vermilion, Protruding tongue, Micrognathia, High, narrow pa...	OMIM:612289
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia	OMIM:619708
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Punctate vertebral calcifications, Hypoplastic vertebral...	OMIM:215140
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hamartomatous polyposis, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation,...	OMIM:175050
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Moebius Syndrome	Arthrogryposis multiplex congenita, Corneal opacity, Dysphagia	ORPHA:570
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Smith-Lemli-Opitz Syndrome	Cataract, Sclerocornea, Short neck, Kyphosis, Hip dislocation, Optic atrophy, Abnormal form of th...	ORPHA:818
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Micrognathia, Deep philtrum, Everted lower lip vermilion, High palate, ...	OMIM:613884
Kawasaki Disease	Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis, Cholecystitis	ORPHA:2331
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno...	OMIM:181000
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Laryngea...	ORPHA:2388
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Acanthocytosis, Tremor, Retinal degeneration, Optic atrophy, Phonic tics...	OMIM:234200
Fraser Syndrome 2	Intestinal malrotation, Short neck, Rectal atresia, Narrow mouth, Microphthalmia, Anal atresia	OMIM:617666
Frontonasal Dysplasia 2	Microphthalmia, Widely spaced teeth, Broad philtrum, Conical tooth	OMIM:613451
Robinow Syndrome	Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis	ORPHA:97360
Osteoglophonic Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Eruption...	OMIM:166250
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Cornelia De Lange Syndrome 1	Duplication of internal organs, Thrombocytopenia	OMIM:122470
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman...	ORPHA:201
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Polysplenia	OMIM:306955
Ogden Syndrome	Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Patent ductus arterio...	OMIM:300855
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Corneal opacity, Hip dislocation, Abnormal curvature o...	ORPHA:90348
Refsum Disease	Microphthalmia	ORPHA:773
Frontometaphyseal Dysplasia 2	Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios...	OMIM:617137
Zttk Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Kyphosis, Submucous cleft hard palate, H...	OMIM:617140
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Vertebral segmentation defect, Median cleft lip, Orofacial cleft	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retrognathia, Optic nerve hypoplasia	OMIM:614643
Milroy Disease	Angiosarcoma, Neoplasm of the skin	ORPHA:79452
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Fibrosarcoma	ORPHA:33001
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Cataract, Corneal opacity, Camptodactyly of finger, Irregular sclerotic endplates, Ky...	ORPHA:3455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Scoliosis, Spinal rigidity	OMIM:253800
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Cleft palate, Thick vermilion border, Hig...	OMIM:224690
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Cataract, Tracheomalacia, Cervical C2/C3 vertebral fusion, Hyperglycemia, Abnormal...	ORPHA:444077
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Meckel Syndrome, Type 1	Anal atresia, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Sho...	OMIM:249000
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Splenomegaly	ORPHA:95159
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Camptodactyly of finger, Keratitis, Kyphosis, Corneal erosion, Delayed skeletal ...	ORPHA:2273
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Osteolysis, Osteochondrosis, Retinopathy, Iris coloboma	ORPHA:2396
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Anemia	ORPHA:90340
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Thoracic scoliosis, Micrognathia, Carious teeth, Downturne...	OMIM:620186
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Cavernous hemangioma of the face, Cavernous hemangioma, Acute myelomonocytic leukemia, Multiple e...	ORPHA:99646
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Microphthalmia	OMIM:601707
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Thin upper lip vermilion, Short neck, Micrognathia, Thick lower lip vermil...	OMIM:612474
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets, Corneal crystals	OMIM:219900
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Fused cervical vertebrae, Fusion of...	OMIM:157800
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Decreased liver function, Thrombocytopenia	ORPHA:466650
Neu-Laxova Syndrome 1	Cleft upper lip, Swollen lip, Short neck, Micrognathia, Thick lower lip vermilion, Cleft palate, ...	OMIM:256520
Linear Nevus Sebaceus Syndrome	Microphthalmia, Vertebral segmentation defect	ORPHA:2612
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Dental maloccl...	OMIM:133540
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Attention deficit hy...	OMIM:613458
Cushing Disease	Leukocytosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased eosinophil cou...	ORPHA:96253
Neuroocular Syndrome	Hypoplasia of the fovea, Sacral dimple, Short uvula, Lens coloboma, Submucous cleft hard palate, ...	OMIM:619539
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Kyphoscoliosis, Hypoplasia of the maxilla, Pyloric stenos...	OMIM:617402
Joubert Syndrome 2	Microphthalmia, High palate	OMIM:608091
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Corneal opacity, Joint stiffness, Limited wrist movement, Osteo...	ORPHA:740
Monosomy 13Q14	Microphthalmia, Micrognathia, Short neck	ORPHA:1587
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Cleft upper...	OMIM:604292
Limb Body Wall Complex	Corneal opacity, Abnormality of the vertebral column, Lens subluxation, Progressive congenital sc...	ORPHA:2369
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Patent ductus arteriosus, Hamartoma, Hepatomegaly	OMIM:617088
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic...	OMIM:608594
Cockayne Syndrome A	Hip contracture, Cataract, Retinal atrophy, Tremor, Splenomegaly, Kyphosis, Limitation of joint m...	OMIM:216400
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Meier-Gorlin Syndrome 3	Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border, Narrow mouth	OMIM:613803
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Optic nerve hypoplasia, Bilateral microphthalmos, Sacrococcygeal pilonidal abn...	ORPHA:468631
Papillorenal Syndrome	Microphthalmia, Scoliosis	OMIM:120330
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut...	ORPHA:99880
Linear Skin Defects With Multiple Congenital Anomalies 1	Cleft palate, Anteriorly placed anus, Colonic atresia, Microphthalmia, Anal atresia	OMIM:309801
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr...	ORPHA:143
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short neck, Micrognathia, Thin vermilion border, High palate, Microphthalmia, U-Shaped upper lip ...	OMIM:609945
Peters Plus Syndrome	Sacral dimple, Cataract, Corneal opacity, Short neck, Optic atrophy, Microcornea, Peters anomaly,...	ORPHA:709
Yunis-Varon Syndrome	Premature loss of primary teeth, Micrognathia, Abnormality of dental structure, Pyloric stenosis,...	ORPHA:3472
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Buphthalmos, Malar flattening	OMIM:101400
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Cleft palate, Stillbirth, Microphthalmia	OMIM:236680
Cockayne Syndrome Type 3	Carious teeth, Kyphosis, Scoliosis, Microphthalmia, Enamel hypoplasia	ORPHA:90324
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph...	ORPHA:1018
Bohring-Opitz Syndrome	Bilateral cleft palate, Sacral dimple, Intestinal malrotation, Cleft upper lip, Micrognathia, Nar...	OMIM:605039
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exocrine pancreatic...	OMIM:219700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Hypoplasia of ...	OMIM:129900
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Bilateral microphthalmos, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Buphthalmos, Hypoplasia of the retina, Everted lower lip vermilion, Microphthalmia,...	OMIM:253280
Degcags Syndrome	Sacral dimple, Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Micrognathia,...	OMIM:619488
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Increased bod...	ORPHA:99889
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity, Camptodactyly of finger	ORPHA:920
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het...	ORPHA:42775
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Choroidal neovascularization, Osteomalacia, Abnormal retinal artery morp...	ORPHA:51608
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Short neck, Micrognathia, Narr...	ORPHA:96334
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the maxilla, Hemivert...	ORPHA:500150
Witteveen-Kolk Syndrome	Microretrognathia, Thin upper lip vermilion, High, narrow palate, Thick lower lip vermilion, Hype...	OMIM:613406
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Lowe Oculocerebrorenal Syndrome	Kyphosis, Platyspondyly, Scoliosis, Microphthalmia, Enamel hypoplasia	OMIM:309000
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Schwannoma, Ossifying fibroma, Granuloma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutane...	ORPHA:363700
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Ankle flexion contracture, Short neck, Craniosynosto...	OMIM:268300
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Ascites	ORPHA:75565
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Delayed skeletal maturation, Optic atrophy, Opa...	ORPHA:910
Adams-Oliver Syndrome 1	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:100300
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Hemivertebrae, Cleft palate, ...	ORPHA:672
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
8Q24.3 Microdeletion Syndrome	Microretrognathia, Thin upper lip vermilion, Thoracic scoliosis, Optic nerve hypoplasia, Short ne...	ORPHA:508488
Floating-Harbor Syndrome	Kyphoscoliosis, Persistence of primary teeth, Celiac disease, Carious teeth, Short neck, Hypoplas...	ORPHA:2044
Hereditary Acrokeratotic Poikiloderma	Joint hyperflexibility, Camptodactyly of finger, Opacification of the corneal stroma, Keratoconju...	ORPHA:2907
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, An...	OMIM:300106
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Delayed eruption of teeth, Mandibular prognathia, Aganglionic megacolon, Dental crowding, Abnorma...	ORPHA:261537
Primrose Syndrome	Hypoplasia of the maxilla, Kyphosis, Thick lower lip vermilion, Downturned corners of mouth, Irre...	OMIM:259050
Mowat-Wilson Syndrome	Delayed eruption of teeth, Mandibular prognathia, Dental crowding, Aganglionic megacolon, Abnorma...	ORPHA:2152
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea	OMIM:619869
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Delayed eruption of teeth, Mandibular prognathia, Aganglionic megacolon, Dental crowding, Abnorma...	ORPHA:261552
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Eruption failure, Scoliosis, ...	OMIM:182250
Holoprosencephaly 1	Microphthalmia, Median cleft lip and palate	OMIM:236100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concentration, Opa...	OMIM:615287
Bohring-Opitz Syndrome	Micrognathia, Cleft lip, Cleft palate, Retrognathia, Prominent palatine ridges	ORPHA:97297
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Hip dislocation, Opacification of the corneal stroma, Scoliosis, Recurrent corneal ero...	OMIM:308205
Townes-Brocks Syndrome	Rectoperineal fistula, Anteriorly placed anus, Wide mouth, Rectovaginal fistula, Microphthalmia, ...	ORPHA:857
Yunis-Varon Syndrome	Wide cranial sutures, Congenital hip dislocation, Absent sternal ossification, Cataract, Scleroco...	OMIM:216340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Pmm2-Cdg	Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology, Impaired n...	ORPHA:79318
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye with optic nerve - process of degenerative change	Asxl1^{tm1a(EUCOMM)Wtsi}	HET		Early adult
Eye with optic nerve - MPATH diagnostic term cataract	Asxl1^{tm1a(EUCOMM)Wtsi}	HET		Early adult

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 Asxl1.

There are 11 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Asxl1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Asxl1^{tm1a(EUCOMM)Wtsi}	PMC6459510
Asxl1 ablation in mouse embryonic stem cells impairs neural differentiation without affecting self-renewal.	Biochemical and biophysical research communications (December 2018)	Asxl1^{tm1a(EUCOMM)Wtsi}	30545639
Asxl1 exerts an antiproliferative effect on mouse lung maturation via epigenetic repression of the E2f1-Nmyc axis.	Cell Death & Disease (November 2018)	Asxl1 ^{tm1a(EUCOMM)Wtsi}	PMC6215009
ASXL1 impairs osteoclast formation by epigenetic regulation of NFATc1.	Blood advances (October 2018)	Asxl1^{tm1a(EUCOMM)Wtsi}	PMC6177649
Asxl1 deficiency in embryonic fibroblasts leads to cellular senescence via impairment of the AKT-E2F pathway and Ezh2 inactivation.	Scientific reports (July 2017)	Asxl1^{tm1e(EUCOMM)Wtsi}	PMC5507898
Role of Asxl1 in kidney podocyte development via its interaction with Wtip.	Biochemical and biophysical research communications (September 2015)	Asxl1^{tm1a(EUCOMM)Wtsi}	26385183
A gene expression resource generated by genome-wide lacZ profiling in the mouse.	Disease models & mechanisms (August 2015)	Asxl1^{tm1a(EUCOMM)Wtsi}	PMC4631787
Additional sex combs-like family genes are required for normal cardiovascular development.	Genesis (New York, N.Y. : 2000) (June 2014)	Asxl1^{tm1a(EUCOMM)Wtsi}	24860998
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.	Cell (July 2013)	Asxl1^{tm1a(EUCOMM)Wtsi}	PMC3717207
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength.	PLoS genetics (August 2012)	Asxl1^{tm1a(EUCOMM)Wtsi}	PMC3410859

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Asxl1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	Mice
Asxl1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Asxl1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Asxl1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Asxl1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Asxl1 MGI:2684063

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Asxl1 mutations

Histopathology

IMPC related publications

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